Allele Registry

Canonical Allele Identifier: PA2825331991

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV002508116

ClinVar Variation:

9292

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Pro199Ala	CA120284 NM_001024024.2:c.595C>G