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: PA326508

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53268

ClinVar RCV Id: RCV000577735 RCV001804778

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Pro499Ala	CA326507 NM_000492.4:c.1495C>G