Allele Registry

Canonical Allele Identifier: PA2830490693

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000608122

RCV000946059

ClinVar Variation:

512266

HGVS (amino-acid)	Matching Registered Transcripts
NP_958783.1:p.Gln1044Arg	CA4927166 NM_201381.3:c.3131A>G