Canonical Allele Identifier: CA913180481
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693001
ClinVar RCV Id: RCV000854341
dbSNP Id: rs1603221840
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8844C>A , J01415.2:m.8844C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.318C>A ENSP00000354632.2:p.Ile106=
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