Allele Registry

Canonical Allele Identifier: PA2830506238

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000606128

RCV001860281

ClinVar Variation:

509844

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Ala2490Pro	CA372525148 NM_201384.3:c.7468G>C