Allele Registry

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Canonical Allele Identifier: CA414772965

Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692367

ClinVar RCV Id: RCV000853672

dbSNP Id: rs1603218998

COSMIC: COSM1133243 COSM1133244

MyVariant Identifiers: chrMT:g.3526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3526G>A , J01415.2:m.3526G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.220G>A	ENSP00000354687.2:p.Ala74Thr

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