ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741863171
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2711040
ClinVar RCV Id:
RCV003496394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Pro88Arg
CA410602095
NM_001320298.2:c.263C>G