Allele Registry

Canonical Allele Identifier: PA2830499436

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000592909

RCV000726708

RCV001089178

ClinVar Variation:

487332

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Gln506His	CA4927939 NM_201383.3:c.1518G>C CA372581265 NM_201383.3:c.1518G>T