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: PA326922

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53564

ClinVar RCV Id: RCV000781282 RCV001277174

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Glu92Asp	CA326921 NM_000492.4:c.276A>T CA368974184 NM_000492.4:c.276A>C