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.Lys45Asn	CA389794207 NM_001024071.2:c.135G>T CA389794208 NM_001024071.2:c.135G>C