Canonical Allele Identifier: CA254849
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9648
ClinVar RCV Id: RCV000010283
dbSNP Id: rs387906423
PubMed: PMID:19124644
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8618dup , J01415.2:m.8618dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.92dup ENSP00000354632.2:p.Thr33HisfsTer?
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