ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425500
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000481039
ClinVar Variation:
423661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000152.1:p.Ala101Thr
CA16619875
NM_000161.3:c.301G>A