Allele Registry

Canonical Allele Identifier: PA2825174312

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000536048

RCV004538042

ClinVar Variation:

471621

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg2040Trp	CA4926133 NM_000445.4:c.6118C>T