Allele Registry

Canonical Allele Identifier: PA2828720459

Gene: GPHN HGNC NCBI

ClinVar RCV:

RCV000642141

RCV003338709

ClinVar Variation:

534549

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364443.1:p.Asn29Ser	CA7233631 NM_001377514.1:c.86A>G