Allele Registry

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This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: CA913190826

Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 590998

ClinVar RCV Id: RCV000770897

dbSNP Id: rs1569484221

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8562_8564dup , J01415.2:m.8562_8564dup	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361851.1:c.197_199dup (MT-ATP8)	ENSP00000355265.1:p.Pro66_Gln67insPro
ENST00000361899.2:c.36_38dup (MT-ATP6)	ENSP00000354632.2:p.Thr13_Ile14insThr

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