Canonical Allele Identifier: PA2580206414
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_001307227.1:p.Asp506Asn
CA410395701
NM_001320298.2:c.1516G>A
CA2579811182
NM_001320298.2:c.1516_1518delinsAAT