Allele Registry

Canonical Allele Identifier: PA093758

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000007591

RCV001004252

RCV003466829

ClinVar Variation:

7171

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg347Leu	CA325561 NM_000492.4:c.1040G>T