ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024450
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500050
ClinVar RCV Id:
RCV000596015
RCV002315894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Arg389Thr
CA410397816
NM_001320298.2:c.1166G>C