Canonical Allele Identifier: PA2826133358
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 340089
ClinVar RCV Id: RCV000667483 RCV001175468 RCV002231054 RCV003736733
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Arg125Trp
CA10644742
NM_001178009.3:c.373C>T