ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
CA414805125
Community Standard Title: NC_012920.1:m.10344A>T
Gene: MT-ND3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10344A>T , J01415.2:m.10344A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361227.2:c.286A>T
ENSP00000355206.2:p.Ile96Phe
Search 100 bp 5'
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