Allele Registry

Canonical Allele Identifier: PA2830479816

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598514

RCV000812370

ClinVar Variation:

497045

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Arg2980His	CA4925119 NM_201378.4:c.8939G>A