Allele Registry

Canonical Allele Identifier: PA2830479243

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000424970

RCV001062533

ClinVar Variation:

385968

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Arg2533Trp	CA4925558 NM_201378.4:c.7597C>T