Allele Registry

Canonical Allele Identifier: PA2825331985

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009867

ClinVar Variation:

9284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Ala196Ser	CA254724 NM_001024024.2:c.586G>T