Canonical Allele Identifier: PA2826133623
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 371028
ClinVar RCV Id: RCV000410016 RCV000780081 RCV001000797 RCV001861384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Val320Ala
CA16041998
NM_001178009.3:c.959T>C
CA2579803168
NM_001178009.3:c.959_960delinsCT