Canonical Allele Identifier: PA2579801112
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu426Thr
CA2579807297
NM_000071.3:c.1276_1278delinsACG
CA2579807298
NM_000071.3:c.1276_1278delinsACT