Canonical Allele Identifier: PA2826133163
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 405371
ClinVar RCV Id: RCV000467733 RCV002230757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Ala509Thr
CA16616509
NM_001178008.3:c.1525G>A
CA2579813016
NM_001178008.3:c.1525_1527delinsACG
CA2579813017
NM_001178008.3:c.1525_1527delinsACT