Canonical Allele Identifier: PA2826133690
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212862
ClinVar RCV Id: RCV000196393 RCV000410135 RCV002229026 RCV003401061 RCV002433873 RCV003895256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Val371Met
CA320805
NM_001178009.3:c.1111G>A