Allele Registry

Canonical Allele Identifier: PA211436

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000148506

RCV000489411

RCV000819611

RCV001705951

RCV001797636

ClinVar Variation:

161248

HGVS (amino-acid)	Matching Registered Transcripts
NP_000152.1:p.Val204Ile	CA211435 NM_000161.3:c.610G>A