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_011528075.1:p.Thr252Ile
XM_011529773.1:c.755C>T
XM_011529773.1:c.755_756delinsTA
XM_011529773.1:c.755_756delinsTT