Canonical Allele Identifier: PA2579796909
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu230Phe
CA2579807691
NM_000071.3:c.688_690delinsTTC
CA2579807692
NM_000071.3:c.688_690delinsTTT