Canonical Allele Identifier: PA2827043082
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2035035
ClinVar RCV Id: RCV002889834

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu176Asp
CA410601270
NM_001320298.2:c.528G>T
CA410601272
NM_001320298.2:c.528G>C