Canonical Allele Identifier: PA2826132982
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188801
ClinVar RCV Id: RCV000169132 RCV000197584 RCV000780082 RCV002390401 RCV002228607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly347Ser
CA273978
NM_001178008.3:c.1039G>A