Allele Registry

Canonical Allele Identifier: PA2830478477

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000648566

RCV000727788

RCV002524102

ClinVar Variation:

432861

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Ala2141Val	CA4925980 NM_201378.4:c.6422C>T