Canonical Allele Identifier: PA2826132644
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2044292
ClinVar RCV Id: RCV002903580
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly100Ser
CA410602016
NM_001178008.3:c.298G>A
CA2579810121
NM_001178008.3:c.298_300delinsTCT
CA2579810122
NM_001178008.3:c.298_299delinsTC
CA2579813749
NM_001178008.3:c.298_300delinsAGT