Allele Registry

Canonical Allele Identifier: PA2830490849

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000485767

RCV000798873

ClinVar Variation:

424230

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Ala1194Thr	CA4926989 NM_201381.3:c.3580G>A