Canonical Allele Identifier: CA913190825
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 590888
ClinVar RCV Id: RCV000768655
dbSNP Id: rs1569484209
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8431_8432insCCA , J01415.2:m.8431_8432insCCA GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.66_67insCCA ENSP00000355265.1:p.Leu22_Ile23insPro
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