Allele Registry

Canonical Allele Identifier: PA2830496115

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000725003

RCV001069615

ClinVar Variation:

281991

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Glu1777Asp	CA4926389 NM_201382.4:c.5331G>C CA372546031 NM_201382.4:c.5331G>T