Canonical Allele Identifier: PA916024407
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 560232
ClinVar RCV Id: RCV000678282 RCV001572365 RCV002532177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu283Lys
CA321091525
NM_001320298.2:c.847G>A
CA2579809993
NM_001320298.2:c.847_849delinsAAG