ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825332119
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1035389
ClinVar RCV Id:
RCV001338249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019241.1:p.Glu84Gln
CA7193651
NM_001024070.2:c.250G>C