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: PA327195

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53747

ClinVar RCV Id: RCV000577089 RCV001009502 RCV001508225 RCV003474579

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Val1153Glu	CA327194 NM_000492.4:c.3458T>A