ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024413
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471368
ClinVar RCV Id:
RCV000558244
RCV002530068
RCV002377130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Thr296Met
CA321091405
NM_001320298.2:c.887C>T