Allele Registry

Canonical Allele Identifier: PA2499235245

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV001546383

RCV002568967

ClinVar Variation:

1187065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019242.1:p.Ser80Asn	CA7193654 NM_001024071.2:c.239G>A