Canonical Allele Identifier: PA2579794136
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys98Ser
CA2579805811
NM_000071.3:c.293_294delinsGT
CA2579805813
NM_000071.3:c.292_294delinsTCT
CA2579805814
NM_000071.3:c.292_293delinsTC