Allele Registry

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Canonical Allele Identifier: CA337098253

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693113

ClinVar RCV Id: RCV000854463

dbSNP Id: rs2298010

COSMIC: COSM1138420 COSM1138421

MyVariant Identifiers: chrMT:g.9163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9163G>A , J01415.2:m.9163G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.637G>A	ENSP00000354632.2:p.Val213Ile

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