Allele Registry

Canonical Allele Identifier: PA2830478484

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000601790

RCV000819372

RCV003488728

ClinVar Variation:

516477

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Leu2143Val	CA4925977 NM_201378.4:c.6427C>G