Allele Registry

Canonical Allele Identifier: PA2825331973

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009873

RCV003137509

RCV003764543

ClinVar Variation:

9290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Arg184His	CA120283 NM_001024024.2:c.551G>A