Allele Registry

Canonical Allele Identifier: PA096035

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV001260617

RCV001851776

RCV002223756

RCV002508112

ClinVar Variation:

9281

HGVS (amino-acid)	Matching Registered Transcripts
NP_000152.1:p.Met221Thr	CA120278 NM_000161.3:c.662T>C