Allele Registry

Canonical Allele Identifier: PA645467805

Gene: ATP6V1E1 HGNC NCBI

ClinVar RCV:

RCV000477698

ClinVar Variation:

417759

HGVS (amino-acid)	Matching Registered Transcripts
NP_001687.1:p.Leu128Pro	CA16616866 NM_001696.4:c.383T>C