Canonical Allele Identifier: PA2826133346
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 895757
ClinVar RCV Id: RCV001138042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ser117Cys
CA410601894
NM_001178009.3:c.349A>T
CA2579804794
NM_001178009.3:c.349_351delinsTGT