Canonical Allele Identifier: PA2579801175
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile429Phe
CA410397221
NM_000071.3:c.1285A>T
CA2579808134
NM_000071.3:c.1285_1287delinsTTT