Canonical Allele Identifier: PA2579796828
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala226Leu
CA2579813048
NM_000071.3:c.676_677delinsCT
CA2579813050
NM_000071.3:c.676_678delinsCTT
CA2579813052
NM_000071.3:c.676_678delinsTTG