Canonical Allele Identifier: PA2827070748
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 646873
ClinVar RCV Id: RCV000801252 RCV001592989 RCV002537133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg334Trp
CA321688011
NM_001321072.1:c.1000C>T