Canonical Allele Identifier: PA2826133788
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Leu456Pro
CA410396812
NM_001178009.3:c.1367T>C
CA2579807197
NM_001178009.3:c.1367_1368delinsCA
CA2579807199
NM_001178009.3:c.1367_1368delinsCT