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: PA326436

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53216

ClinVar RCV Id: RCV000577449

ClinVar Variation Id: 1706040

ClinVar RCV Id: RCV002284570

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Glu403Asp	CA326435 NM_000492.4:c.1209G>C CA368980326 NM_000492.4:c.1209G>T