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
XP_011528079.1:p.Asp234Ala
XM_011529777.2:c.701A>C
XM_011529777.2:c.701_702delinsCG
XM_011529777.2:c.701_702delinsCT