Canonical Allele Identifier: PA2827043066
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1481680
ClinVar RCV Id: RCV002024992

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala158Val
CA410601473
NM_001320298.2:c.473C>T
CA2579813165
NM_001320298.2:c.473_474delinsTC