Canonical Allele Identifier: PA2826132583
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212871
ClinVar RCV Id: RCV000198945 RCV001081627 RCV002229027 RCV002381662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Arg45Trp
CA323483
NM_001178008.3:c.133C>T