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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000344460.5:p.[Thr236_Asp245delinsProLeuMetArgSerCysSerSerValMet;Lys247_Ala265delinsSerTrpThrCysTrpTrpLeuGlnTrpAlaArgAlaAlaProSerArgAlaLeu]
CA1022642304
ENST00000352178.9:c.705del