Allele Registry

Canonical Allele Identifier: PA645467806

Gene: ATP6V1E1 HGNC NCBI

ClinVar RCV:

RCV000477738

RCV002298611

RCV004541516

ClinVar Variation:

417760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001687.1:p.Arg212Trp	CA16616867 NM_001696.4:c.634C>T