Canonical Allele Identifier: PA2579797137
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu241Ser
CA2579807666
NM_000071.3:c.721_723delinsAGT
CA2579807668
NM_000071.3:c.721_723delinsTCT