Allele Registry

Canonical Allele Identifier: PA202544

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000177598

RCV000712756

RCV001086675

RCV002871046

RCV004537437

ClinVar Variation:

196716

2019357

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Ala2450Thr	CA202537 NM_000445.4:c.7348G>A CA2580078728 NM_000445.4:c.7347_7348delinsTA