ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112350
Gene: CD40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17749
ClinVar RCV Id:
RCV000019325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001241.1:p.Cys83Arg
CA127369
NM_001250.6:c.247T>C