Allele Registry

Canonical Allele Identifier: PA327028

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577048

RCV001004288

RCV001174827

ClinVar Variation:

53640

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Phe1016Ser	CA327027 NM_000492.4:c.3047T>C