Canonical Allele Identifier: PA2825332224
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2498594
ClinVar RCV Id: RCV003222803

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Thr186Pro
CA389787396
NM_001024070.2:c.556A>C