Allele Registry

Canonical Allele Identifier: PA2580132616

Gene: GCH1 HGNC NCBI

ClinVar Allele:

2130654

ClinVar RCV:

RCV002949635

ClinVar Variation:

2072725

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Arg59Gly	CA7193669 NM_001024071.2:c.175C>G