Canonical Allele Identifier: PA658653911
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444330
ClinVar RCV Id: RCV000513209 RCV001063206 RCV002481651
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Gln110Glu
CA7193636
NM_000161.3:c.328C>G