Canonical Allele Identifier: PA2826133546
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 538698
ClinVar RCV Id: RCV002235503 RCV003226347 RCV003459543
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Gly259Ser
CA321094274
NM_001178009.3:c.775G>A
CA2579809875
NM_001178009.3:c.775_776delinsTC