Allele Registry

Canonical Allele Identifier: PA243998

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000705315

RCV000724247

RCV002516743

ClinVar Variation:

196751

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Lys2461Asn	CA243993 NM_201384.3:c.7383G>T CA372525782 NM_201384.3:c.7383G>C