Allele Registry

Canonical Allele Identifier: PA2830478280

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000352378

RCV000725974

RCV001079892

RCV001331245

ClinVar Variation:

287223

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Ala2069Val	CA4926068 NM_201378.4:c.6206C>T