Canonical Allele Identifier: PA2826133239
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 871476
ClinVar RCV Id: RCV001091466 RCV001833697 RCV002375012 RCV002554835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ala24Val
CA321104045
NM_001178009.3:c.71C>T
CA2579812957
NM_001178009.3:c.71_72delinsTA
CA2579812959
NM_001178009.3:c.71_72delinsTT