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: PA2499232918

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1163872

ClinVar RCV Id: RCV001509324 RCV002439208

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Thr925Ala	CA368986746 NM_000492.4:c.2773A>G