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: PA2499232891

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1163873

ClinVar RCV Id: RCV001509325 RCV002439209

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Leu926Phe	CA4451287 NM_000492.4:c.2778G>T CA368986774 NM_000492.4:c.2778G>C