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: GCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Glu183Asp	CA389787408 NM_001024071.2:c.549G>T CA389787409 NM_001024071.2:c.549G>C