Canonical Allele Identifier: PA2826132643
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 405376
ClinVar RCV Id: RCV000459701 RCV000497848 RCV001704553 RCV002436393 RCV002525534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Phe99Tyr
CA16616548
NM_001178008.3:c.296T>A
CA2579805984
NM_001178008.3:c.296_297delinsAT