Canonical Allele Identifier: PA2580206263
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro88Ala
CA410602098
NM_001320298.2:c.262C>G
CA3273285682
NM_001320298.2:c.262_264delinsGCG
CA3273285684
NM_001320298.2:c.262_264delinsGCC
CA3273285686
NM_001320298.2:c.262_264delinsGCA