Canonical Allele Identifier: PA2573176518
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460390

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.Arg184Cys
CA389787405
NM_001024071.2:c.550C>T