Allele Registry

Canonical Allele Identifier: PA244254

Gene: PLEC HGNC NCBI

ClinVar Allele:

193978

ClinVar RCV:

RCV000723606

RCV001082916

RCV004020114

RCV004537445

ClinVar Variation:

196817

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Asp2804Asn	CA244253 NM_201381.3:c.8410G>A