Allele Registry

Canonical Allele Identifier: PA2573074551

Gene: GPHN HGNC NCBI

ClinVar RCV:

RCV000642138

ClinVar Variation:

534546

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364448.1:p.Val116Ile	CA7233727 NM_001377519.1:c.346G>A