Canonical Allele Identifier: PA2579796575
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile214Phe
CA410600829
NM_000071.3:c.640A>T
CA2579808845
NM_000071.3:c.640_642delinsTTT