Canonical Allele Identifier: PA2825070770
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807219
ClinVar RCV Id: RCV002475176
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Thr186Ile
CA389787391
NM_000161.3:c.557C>T