Allele Registry

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Canonical Allele Identifier: CA10581404

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235698

ClinVar RCV Id: RCV000224169 RCV000709942 RCV000854460

dbSNP Id: rs878853096

MyVariant Identifiers: chrMT:g.9152T>C (hg38)

ERepo: CA10581404/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9152T>C , J01415.2:m.9152T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.626T>C	ENSP00000354632.2:p.Ile209Thr

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