Canonical Allele Identifier: PA2579797231
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp245Leu
CA2579811493
NM_000071.3:c.733_734delinsCT
CA2579811494
NM_000071.3:c.733_735delinsTTG