Canonical Allele Identifier: PA2573070334
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1301394
ClinVar RCV Id: RCV001732832 RCV002488496 RCV002539830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ser500Leu
CA321686665
NM_001320298.2:c.1499C>T
CA2579805303
NM_001320298.2:c.1498_1499delinsCT
CA2579813453
NM_001320298.2:c.1498_1500delinsCTT