Allele Registry

Canonical Allele Identifier: PA253670

Gene: GPHN HGNC NCBI

ClinVar RCV:

RCV000006337

RCV000031964

RCV000697829

RCV002496282

RCV002512829

RCV003480022

ClinVar Variation:

5973

HGVS (amino-acid)	Matching Registered Transcripts
NP_065857.1:p.Asn10Tyr	CA253669 NM_020806.5:c.28A>T