Canonical Allele Identifier: PA2826133615
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Val314Ala
CA410599956
NM_001178009.3:c.941T>C
CA2579803201
NM_001178009.3:c.941_942delinsCT