Allele Registry

Canonical Allele Identifier: PA2830490180

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000592909

RCV000726708

RCV001089178

ClinVar Variation:

487332

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Gln470His	CA4927939 NM_201381.3:c.1410G>C CA372581265 NM_201381.3:c.1410G>T