Canonical Allele Identifier: PA2826132984
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2740815
ClinVar RCV Id: RCV003494889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Ser349Arg
CA410398261
NM_001178008.3:c.1047T>G
CA410398263
NM_001178008.3:c.1047T>A
CA410398272
NM_001178008.3:c.1045A>C