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: CBS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001171479.1:p.Tyr233Ter
NM_001178008.3:c.698_699delinsGA
NM_001178008.3:c.699C>A
NM_001178008.3:c.699C>G