Canonical Allele Identifier: PA2826133073
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212866
ClinVar RCV Id: RCV000554628 RCV000592999 RCV002315524 RCV002517169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Val425Met
CA325175
NM_001178008.3:c.1273G>A