Allele Registry

Canonical Allele Identifier: PA2825331931

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009868

ClinVar Variation:

9285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Ile135Lys	CA254726 NM_001024024.2:c.404T>A