Canonical Allele Identifier: PA2499248491
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro88Ser
CA410602097
NM_001320298.2:c.262C>T
CA2579805409
NM_001320298.2:c.262_264delinsTCG