Canonical Allele Identifier: CA414798289
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692992
ClinVar RCV Id: RCV000854332
dbSNP Id: rs1603221825
MyVariant Identifiers: chrMT:g.8821T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8821T>C , J01415.2:m.8821T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.295T>C ENSP00000354632.2:p.Ser99Pro
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