Canonical Allele Identifier: PA2826133580
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1192201
ClinVar RCV Id: RCV001553570

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ala288Pro
CA410600125
NM_001178009.3:c.862G>C
CA2579812913
NM_001178009.3:c.862_864delinsCCT