Canonical Allele Identifier: PA2826133837
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1774323
ClinVar RCV Id: RCV002392325

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Asp506Asn
CA410395701
NM_001178009.3:c.1516G>A
CA2579811182
NM_001178009.3:c.1516_1518delinsAAT