Allele Registry

Canonical Allele Identifier: PA117290

Gene: ATP6V0A4 HGNC NCBI

ClinVar RCV:

RCV001807625

RCV001851665

ClinVar Variation:

5151

HGVS (amino-acid)	Matching Registered Transcripts
NP_570856.2:p.Gly820Arg	CA117288 NM_130841.3:c.2458G>A CA369373931 NM_130841.3:c.2458G>C