Allele Registry

Canonical Allele Identifier: PA244000

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000705315

RCV000724247

RCV002516743

ClinVar Variation:

196751

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Lys2488Asn	CA243993 NM_000445.4:c.7464G>T CA372525782 NM_000445.4:c.7464G>C