Canonical Allele Identifier: PA2826133582
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 555709
ClinVar RCV Id: RCV000671575 RCV002282314 RCV004026125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ala288Thr
CA321091505
NM_001178009.3:c.862G>A
CA2579812909
NM_001178009.3:c.862_864delinsACT