Allele Registry

Canonical Allele Identifier: PA2830505990

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000328457

RCV000545783

ClinVar Variation:

283645

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Asp2260Asn	CA4925865 NM_201384.3:c.6778G>A