Allele Registry

Canonical Allele Identifier: PA2830478940

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000594258

RCV000688855

RCV000725806

ClinVar Variation:

497040

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Ala2340Val	CA4925770 NM_201378.4:c.7019C>T