Canonical Allele Identifier: PA2827070630
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 500050
ClinVar RCV Id: RCV000596015 RCV002315894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg284Thr
CA410397816
NM_001321072.1:c.851G>C