Allele Registry

Canonical Allele Identifier: PA2830492210

Gene: PLEC HGNC NCBI

ClinVar Allele:

488464

ClinVar RCV:

RCV000594258

RCV000688855

RCV000725806

ClinVar Variation:

497040

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Ala2322Val	CA4925770 NM_201381.3:c.6965C>T