Allele Registry

Canonical Allele Identifier: PA2825332245

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000440945

RCV000811926

RCV002283480

ClinVar Variation:

381665

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019241.1:p.Gly203Arg	CA16606864 NM_001024070.2:c.607G>A CA389787298 NM_001024070.2:c.607G>C