Canonical Allele Identifier: PA916024750
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212842
ClinVar RCV Id: RCV000196859 RCV000475484 RCV001192722 RCV002229025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg16Cys
CA321269
NM_001321072.1:c.46C>T
CA2579812225
NM_001321072.1:c.46_48delinsTGT