Canonical Allele Identifier: PA2579794221
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys102Ser
CA2579806860
NM_000071.3:c.304_305delinsTC
CA2579806862
NM_000071.3:c.304_306delinsTCT