Canonical Allele Identifier: PA2827070194
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala121Thr
CA16042003
NM_001321072.1:c.361G>A
CA3273290989
NM_001321072.1:c.361_363delinsACA
CA3273290991
NM_001321072.1:c.361_363delinsACG
CA3273290992
NM_001321072.1:c.361_363delinsACT