This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Thr428Ser
CA410397231
NM_001320298.2:c.1283C>G
CA410397234
NM_001320298.2:c.1282A>T
CA2579804251
NM_001320298.2:c.1282_1284delinsTCA
CA2579804252
NM_001320298.2:c.1282_1284delinsTCT
CA2579804253
NM_001320298.2:c.1283_1284delinsGT
CA2579804255
NM_001320298.2:c.1282_1284delinsTCG