Canonical Allele Identifier: PA916024399
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188927
ClinVar RCV Id: RCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Thr257Met
CA274140
NM_001320298.2:c.770C>T