Canonical Allele Identifier: PA2827043063
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 263924
ClinVar RCV Id: RCV000527354 RCV002310909 RCV002518703 RCV001589301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala157Thr
CA10587952
NM_001320298.2:c.469G>A
CA2579813179
NM_001320298.2:c.469_471delinsACC