Canonical Allele Identifier: PA2579791985
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr493Val
CA2579803744
NM_000071.3:c.1477_1478delinsGT
CA2579803745
NM_000071.3:c.1477_1479delinsGTC
CA2579803746
NM_000071.3:c.1477_1479delinsGTT