Allele Registry

Canonical Allele Identifier: PA094658

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000007638

RCV000211301

RCV000506301

RCV000780175

RCV001826447

RCV003466832

ClinVar Variation:

7217

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ser1251Asn	CA325603 NM_000492.4:c.3752G>A