Canonical Allele Identifier: PA2827070408
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 496864
ClinVar RCV Id: RCV000723460 RCV001805199 RCV002232228 RCV003459461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu197Lys
CA321091356
NM_001321072.1:c.589G>A