Allele Registry

Canonical Allele Identifier: PA2828721518

Gene: GPHN HGNC NCBI

ClinVar RCV:

RCV000006337

RCV000031964

RCV000697829

RCV002496282

RCV002512829

RCV003480022

ClinVar Variation:

5973

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364446.1:p.Asn10Tyr	CA253669 NM_001377517.1:c.28A>T