Allele Registry

Canonical Allele Identifier: PA2825175097

Gene: PLEC HGNC NCBI

ClinVar Allele:

268184

ClinVar RCV:

RCV000314788

RCV000554534

RCV000725362

ClinVar Variation:

283947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg2716His	CA4925429 NM_000445.4:c.8147G>A