Allele Registry

Canonical Allele Identifier: PA327490

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000576960

RCV000593590

RCV001004430

RCV003235020

ClinVar Variation:

53949

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ile148Asn	CA327489 NM_000492.4:c.443T>A