Allele Registry

Canonical Allele Identifier: PA915956688

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009865

RCV000517539

RCV000525589

RCV000989227

RCV002255090

RCV002508114

RCV002512951

ClinVar Variation:

9283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Lys224Arg	CA120280 NM_001024024.2:c.671A>G