Canonical Allele Identifier: PA2579796805
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn225Phe
CA2579811836
NM_000071.3:c.673_674delinsTT
CA2579811837
NM_000071.3:c.673_675delinsTTT