Allele Registry

Canonical Allele Identifier: PA2830492280

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000648698

RCV001078748

ClinVar Variation:

539057

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Ala2378Val	CA4925721 NM_201381.3:c.7133C>T