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: PA326825

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53495

ClinVar RCV Id: RCV000577037 RCV000781228 RCV001508589 RCV001831751

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Glu826Lys	CA326824 NM_000492.4:c.2476G>A