Canonical Allele Identifier: PA2827042994
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 119
ClinVar RCV Id: RCV000000140 RCV000200823 RCV000590659 RCV000490533 RCV002227956 RCV002453244 RCV003952330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala114Val
CA113878
NM_001320298.2:c.341C>T
CA2579813313
NM_001320298.2:c.341_342delinsTT