Allele Registry

Canonical Allele Identifier: PA915956680

Gene: GCH1 HGNC NCBI

ClinVar RCV:

RCV000009870

ClinVar Variation:

9287

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019195.1:p.Met211Ile	CA120282 NM_001024024.2:c.633G>A CA389787232 NM_001024024.2:c.633G>T CA389787233 NM_001024024.2:c.633G>C