Allele Registry

Canonical Allele Identifier: PA2830487971

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000801565

RCV001897430

ClinVar Variation:

647134

1382124

HGVS (amino-acid)	Matching Registered Transcripts
NP_958781.1:p.Thr4473Ala	CA4923786 NM_201379.3:c.13417A>G CA915948720 NM_201379.3:c.13416_13417delinsGG