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: PA326612

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53344

ClinVar RCV Id: RCV000576976 RCV001588873 RCV002469000 RCV001009513 RCV001831733

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Asp565Gly	CA326611 NM_000492.4:c.1694A>G