Canonical Allele Identifier: PA2825070630
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035389
ClinVar RCV Id: RCV001338249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Glu84Gln
CA7193651
NM_000161.3:c.250G>C