Canonical Allele Identifier: PA2827070707
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 264043
ClinVar RCV Id: RCV002310967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala316Asp
CA10587938
NM_001321072.1:c.947C>A
CA2579812606
NM_001321072.1:c.947_948delinsAT