Canonical Allele Identifier: PA2827070829
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Leu351Pro
CA410396812
NM_001321072.1:c.1052T>C
CA2579807197
NM_001321072.1:c.1052_1053delinsCA
CA2579807199
NM_001321072.1:c.1052_1053delinsCT