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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ser227Thr
CA410600633
NM_001320298.2:c.680G>C
CA2579804597
NM_001320298.2:c.680_681delinsCG
CA2579804598
NM_001320298.2:c.680_681delinsCT