Canonical Allele Identifier: PA2830185643
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331365
ClinVar RCV Id: RCV001806709

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570856.2:p.Glu840_Ter841insGlnAlaGluGlyCysThrSerHisGlyGlyHisHisAlaAsnGluGlySerSerValLeuSerLeuIleSerAlaProAlaArgArgSerMetGlyArgLeuPheLeuAlaHisLeuLysHisGluThrValTyrTyrLeuAspValSerLeuTrpIle
CA369373588
NM_130841.3:c.2521T>C