Canonical Allele Identifier: PA2827043161
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ile278Ser
CA410600182
NM_001320298.2:c.833T>G
CA2579808227
NM_001320298.2:c.832_833delinsTC
CA2579808228
NM_001320298.2:c.832_834delinsTCG