Allele Registry

Canonical Allele Identifier: PA915956744

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009867

ClinVar Variation:

9284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Ala196Ser	CA254724 NM_001024071.2:c.586G>T