Allele Registry

Canonical Allele Identifier: PA2830501356

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000328457

RCV000545783

ClinVar Variation:

283645

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Asp2264Asn	CA4925865 NM_201383.3:c.6790G>A