ClinGen Allele Registry
Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: GCH1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000477796.1:p.Met211Ile
ENST00000622544.4:c.633G>A
ENST00000622544.4:c.633G>C
ENST00000622544.4:c.633G>T
