Canonical Allele Identifier: PA2826133535
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Leu251Pro
CA410600363
NM_001178009.3:c.752T>C
CA2579807628
NM_001178009.3:c.752_753delinsCT