Allele Registry

Canonical Allele Identifier: PA915958101

Gene: ATP6V1E1 HGNC NCBI

ClinVar RCV:

RCV000477698

ClinVar Variation:

417759

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034456.1:p.Leu98Pro	CA16616866 NM_001039367.1:c.293T>C