Allele Registry

Canonical Allele Identifier: PA2830506286

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598086

RCV002530953

ClinVar Variation:

497000

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Arg2531His	CA4925572 NM_201384.3:c.7592G>A