ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956695
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009859
ClinVar Variation:
9277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019242.1:p.Met1Ile