Canonical Allele Identifier: PA2827070288
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr157Ala
CA410600302
NM_001321072.1:c.469A>G
CA2579804157
NM_001321072.1:c.469_471delinsGCA
CA2579804158
NM_001321072.1:c.469_471delinsGCT
CA2579804159
NM_001321072.1:c.469_471delinsGCC