Canonical Allele Identifier: PA2827070590
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212860
ClinVar RCV Id: RCV000231839 RCV000514877 RCV001526851 RCV002310759 RCV002517167 RCV002277461 RCV003401060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg264Cys
CA324371
NM_001321072.1:c.790C>T
CA2579812103
NM_001321072.1:c.790_792delinsTGT