Allele Registry

Canonical Allele Identifier: PA2830496587

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000536622

RCV000593069

RCV002530083

ClinVar Variation:

471631

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Arg2139His	CA4926003 NM_201382.4:c.6416G>A