Allele Registry

Canonical Allele Identifier: PA120285

Gene: GCH1 HGNC NCBI

ClinVar Allele:

24331

ClinVar RCV:

RCV002508116

ClinVar Variation:

9292

HGVS (amino-acid)	Matching Registered Transcripts
NP_000152.1:p.Pro199Ala	CA120284 NM_000161.3:c.595C>G