Canonical Allele Identifier: CA913190824
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 626321
ClinVar RCV Id: RCV000768565
dbSNP Id: rs1569484208

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8420_8421insATA , J01415.2:m.8420_8421insATA GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.55_56insATA ENSP00000355265.1:p.Leu18_Thr19insAsn