Allele Registry

Canonical Allele Identifier: PA220843

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000723747

RCV001088568

RCV004537313

ClinVar Variation:

93017

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Gly3500Ser	CA220836 NM_000445.4:c.10498G>A