Canonical Allele Identifier: PA2579796848
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser227Ile
CA410600632
NM_000071.3:c.680G>T
CA2579804601
NM_000071.3:c.680_681delinsTT