Canonical Allele Identifier: PA2579795745
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Phe
CA410601286
NM_000071.3:c.524C>T
CA2579804715
NM_000071.3:c.524_525delinsTT