Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827161220

Gene: CD40 HGNC NCBI

Linked Data

ClinVar Variation Id: 338576

ClinVar RCV Id: RCV000434147 RCV001000003 RCV001512285

ClinVar Variation Id: 1993262

ClinVar RCV Id: RCV002801261

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309351.1:p.Pro175Ala	CA9888651 NM_001322422.2:c.523C>G CA2580098232 NM_001322422.2:c.522_523delinsTG