Canonical Allele Identifier: PA2579801497
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp444Phe
CA2579811711
NM_000071.3:c.1330_1331delinsTT
CA2579811712
NM_000071.3:c.1330_1332delinsTTT