Allele Registry

Canonical Allele Identifier: PA2830478740

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000328457

RCV000545783

ClinVar Variation:

283645

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Asp2246Asn	CA4925865 NM_201378.4:c.6736G>A