Canonical Allele Identifier: PA2826132604
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1018254

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Ala60Val
CA321103781
NM_001178008.3:c.179C>T
CA2579812445
NM_001178008.3:c.179_180delinsTG
CA2579812446
NM_001178008.3:c.179_180delinsTT