Canonical Allele Identifier: PA2579794054
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys94Arg
CA410602055
NM_000071.3:c.281A>G
CA2579806035
NM_000071.3:c.280_281delinsCG