ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645508174
Gene: CD40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001241.1:p.Pro227Ala
NM_001250.6:c.678_679delinsTG
NM_001250.6:c.679C>G