Canonical Allele Identifier: PA2579794059
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys94Leu
CA2579806028
NM_000071.3:c.280_281delinsTT
CA2579806029
NM_000071.3:c.280_281delinsCT
CA2579806030
NM_000071.3:c.280_282delinsCTT