Canonical Allele Identifier: PA2826133161
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1774323
ClinVar RCV Id: RCV002392325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Asp506Asn
CA410395701
NM_001178008.3:c.1516G>A
CA2579811182
NM_001178008.3:c.1516_1518delinsAAT