Canonical Allele Identifier: PA2827043011
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 340089
ClinVar RCV Id: RCV000667483 RCV001175468 RCV002231054 RCV003736733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg125Trp
CA10644742
NM_001320298.2:c.373C>T