Allele Registry

Canonical Allele Identifier: PA2825331939

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009860

ClinVar Variation:

9278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.His144Pro	CA254723 NM_001024024.2:c.431A>C