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: PA132748

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7130

ClinVar RCV Id: RCV000007550 RCV000036517 RCV001095216 RCV001810835

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Val470Met	CA132747 NM_000492.4:c.1408G>A