Canonical Allele Identifier: PA2580206312
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Thr262Ala
CA410600302
NM_001320298.2:c.784A>G
CA2579804157
NM_001320298.2:c.784_786delinsGCA
CA2579804158
NM_001320298.2:c.784_786delinsGCT
CA2579804159
NM_001320298.2:c.784_786delinsGCC