Canonical Allele Identifier: PA2827070506
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 92423
ClinVar RCV Id: RCV000078105 RCV000169310 RCV001280568 RCV002228199 RCV003905038
ClinVar Variation Id: 419185
ClinVar RCV Id: RCV000487415 RCV002230902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg231Cys
CA274154
NM_001321072.1:c.691C>T
CA16621014
NM_001321072.1:c.690_691delinsTT
CA2579812126
NM_001321072.1:c.691_693delinsTGT