Canonical Allele Identifier: PA2827070574
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala256Thr
CA321689765
NM_001321072.1:c.766G>A
CA658799452
NM_001321072.1:c.765_766delinsTA
CA2579812816
NM_001321072.1:c.766_768delinsACT
CA2579812817
NM_001321072.1:c.766_768delinsACA
CA2579813896
NM_001321072.1:c.766_768delinsACC