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)
Matching Registered Transcripts
ENSP00000352643.3:p.Leu42His
CA2579807252
ENST00000359624.7:c.125_126delinsAT