ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095941
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009868
ClinVar Variation:
9285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000152.1:p.Ile135Lys
CA254726
NM_000161.3:c.404T>A