Allele Registry

Canonical Allele Identifier: PA2830503260

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000615675

RCV001066397

ClinVar Variation:

514406

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Arg4132Gln	CA4924099 NM_201383.3:c.12395G>A