Canonical Allele Identifier: PA2827042992
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala114Ser
CA321097892
NM_001320298.2:c.340G>T
CA2579813316
NM_001320298.2:c.340_342delinsTCT
CA2579813317
NM_001320298.2:c.340_342delinsTCA
CA3273299849
NM_001320298.2:c.340_342delinsAGC
CA3273299863
NM_001320298.2:c.340_342delinsAGT
CA3273299865
NM_001320298.2:c.340_342delinsTCC