Allele Registry

Canonical Allele Identifier: PA2830478079

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000536048

RCV004538042

ClinVar Variation:

471621

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Arg1999Trp	CA4926133 NM_201378.4:c.5995C>T