Allele Registry

Canonical Allele Identifier: PA2825176877

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000591991

RCV000803446

ClinVar Variation:

498663

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Ala4514Thr	CA4923803 NM_000445.4:c.13540G>A