Canonical Allele Identifier: PA2826132550
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 947692
ClinVar RCV Id: RCV002241272

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Arg18Ser
CA321104102
NM_001178008.3:c.52C>A
CA2579812761
NM_001178008.3:c.52_54delinsTCT
CA2579812763
NM_001178008.3:c.52_54delinsAGT