Allele Registry

Canonical Allele Identifier: PA244060

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000177623

RCV001088197

ClinVar Variation:

196759

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Arg1983His	CA244056 NM_201382.4:c.5948G>A