Canonical Allele Identifier: PA2579795756
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Cys
CA410601288
NM_000071.3:c.524C>G
CA2579804728
NM_000071.3:c.524_525delinsGT