ClinGen Allele Registry
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Canonical Allele Identifier:
PA3081107941
Gene: GCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000152.1:p.Ile135Thr
CA389790093
NM_000161.3:c.404T>C