Allele Registry

Canonical Allele Identifier: PA2830492404

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598086

RCV002530953

ClinVar Variation:

497000

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Arg2499His	CA4925572 NM_201381.3:c.7496G>A