Canonical Allele Identifier: CA337098202
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693084
ClinVar RCV Id: RCV000854430
dbSNP Id: rs370460521
MyVariant Identifiers: chrMT:g.9088T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9088T>C , J01415.2:m.9088T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.562T>C ENSP00000354632.2:p.Ser188Pro
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