Canonical Allele Identifier: PA2825070651
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813311
ClinVar RCV Id: RCV001004083 RCV003769402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Thr94Met
CA389793683
NM_000161.3:c.281C>T