Allele Registry

Canonical Allele Identifier: PA915956749

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000440945

RCV000811926

RCV002283480

ClinVar Variation:

381665

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Gly203Arg	CA16606864 NM_001024071.2:c.607G>A CA389787298 NM_001024071.2:c.607G>C