Allele Registry

Canonical Allele Identifier: PA2825383493

Gene: ATP6V1E1 HGNC NCBI

ClinVar RCV:

RCV000477738

RCV002298611

RCV004541516

ClinVar Variation:

417760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034455.1:p.Arg190Trp	CA16616867 NM_001039366.1:c.568C>T