Allele Registry

Canonical Allele Identifier: PA2830504929

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000591344

RCV001490049

RCV003352932

ClinVar Variation:

497109

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Arg1416His	CA4926721 NM_201384.3:c.4247G>A