Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: GPHN HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000438404.1:p.Leu48Phe	CA390255173 ENST00000543237.5:c.144G>C CA390255174 ENST00000543237.5:c.144G>T