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:
CA414809696
Gene: MT-ND4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11207C>A , J01415.2:m.11207C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.448C>A
ENSP00000354961.2:p.Leu150Ile
Search 100 bp 5'
Search 100 bp 3'