Canonical Allele Identifier: PA2827070789
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212868
ClinVar RCV Id: RCV000198168 RCV000764259 RCV001853129
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu346Asp
CA322659
NM_001321072.1:c.1038G>C
CA410396884
NM_001321072.1:c.1038G>T