Allele Registry

Canonical Allele Identifier: PA915956723

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000634833

RCV001659690

RCV002508113

ClinVar Variation:

9282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Gly108Asp	CA120279 NM_001024071.2:c.323G>A