Canonical Allele Identifier: PA2826132774
Gene: CBS HGNC NCBI
ClinVar Allele:
426363
ClinVar RCV:
RCV000497733
ClinVar Variation:
431934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Thr191Lys
CA410601079
NM_001178008.3:c.572C>A