Canonical Allele Identifier: PA2827070274
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188927
ClinVar RCV Id: RCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr152Met
CA274140
NM_001321072.1:c.455C>T