Allele Registry

Canonical Allele Identifier: PA114712

Gene: PLEKHG5 HGNC NCBI

ClinVar RCV:

RCV000001074

RCV000790140

ClinVar Variation:

1019

HGVS (amino-acid)	Matching Registered Transcripts
NP_065682.2:p.Phe647Ser	CA114710 NM_020631.6:c.1940T>C