Canonical Allele Identifier: PA2825331975
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807219
ClinVar RCV Id: RCV002475176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019195.1:p.Thr186Ile
CA389787391
NM_001024024.2:c.557C>T