Canonical Allele Identifier: PA2826132857
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Leu251Pro
CA410600363
NM_001178008.3:c.752T>C
CA2579807628
NM_001178008.3:c.752_753delinsCT