Allele Registry

Canonical Allele Identifier: PA2830494013

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000615675

RCV001066397

ClinVar Variation:

514406

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Arg4096Gln	CA4924099 NM_201381.3:c.12287G>A