Allele Registry

Canonical Allele Identifier: PA2830491049

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000591344

RCV001490049

RCV003352932

ClinVar Variation:

497109

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Arg1384His	CA4926721 NM_201381.3:c.4151G>A