Canonical Allele Identifier: PA2579800618
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr403Leu
CA2579803855
NM_000071.3:c.1207_1208delinsTT
CA2579803856
NM_000071.3:c.1207_1209delinsCTT