Allele Registry

Canonical Allele Identifier: PA244300

Gene: PLEC HGNC NCBI

ClinVar Allele:

193983

ClinVar RCV:

RCV000177693

RCV000725505

RCV000785606

RCV001080318

RCV004528946

ClinVar Variation:

196822

HGVS (amino-acid)	Matching Registered Transcripts
NP_958781.1:p.Arg2662Gln	CA244298 NM_201379.3:c.7985G>A