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: PA2741814765

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2699566

ClinVar RCV Id: RCV003507665

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Leu812Ile	CA368981274 NM_000492.4:c.2434T>A