Canonical Allele Identifier: PA2826132748
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 940215
ClinVar RCV Id: RCV002241073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Met173Arg
CA410601310
NM_001178008.3:c.518T>G
CA2579805789
NM_001178008.3:c.517_518delinsCG