Allele Registry

Canonical Allele Identifier: PA2825173379

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000485767

RCV000798873

ClinVar Variation:

424230

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Ala1253Thr	CA4926989 NM_000445.4:c.3757G>A