Allele Registry

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Canonical Allele Identifier: CA414799043

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172526

ClinVar RCV Id: RCV001526414

dbSNP Id: rs1603221920

MyVariant Identifiers: chrMT:g.8936T>A (hg38)

ERepo: CA414799043/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8936T>A , J01415.2:m.8936T>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.410T>A	ENSP00000354632.2:p.Leu137His

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