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:
CA414802937
Gene: MT-CO3
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.9435A>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9435A>C , J01415.2:m.9435A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.229A>C
ENSP00000354982.2:p.Lys77Gln
Search 100 bp 5'
Search 100 bp 3'