Canonical Allele Identifier: PA2827070545
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 131
ClinVar RCV Id: RCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV002271361 RCV004018522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr248Met
CA113902
NM_001321072.1:c.743C>T