Allele Registry

Canonical Allele Identifier: PA658820239

Gene: GPHN HGNC NCBI

ClinVar RCV:

RCV000642141

RCV003338709

ClinVar Variation:

534549

HGVS (amino-acid)	Matching Registered Transcripts
NP_065857.1:p.Asn29Ser	CA7233631 NM_020806.5:c.86A>G