Canonical Allele Identifier: CA337097956
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692940
ClinVar RCV Id: RCV000854276
dbSNP Id: rs28479867
MyVariant Identifiers: chrMT:g.8648G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8648G>A , J01415.2:m.8648G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.122G>A ENSP00000354632.2:p.Arg41Gln
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