ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095921
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009860
ClinVar Variation:
9278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000152.1:p.His144Pro
CA254723
NM_000161.3:c.431A>C