Allele Registry

Canonical Allele Identifier: PA2830457940

Gene: PLEKHG5 HGNC NCBI

ClinVar RCV:

RCV000001074

RCV000790140

ClinVar Variation:

1019

HGVS (amino-acid)	Matching Registered Transcripts
NP_941374.3:p.Phe647Ser	CA114710 NM_198681.4:c.1940T>C