Allele Registry

Canonical Allele Identifier: PA094330

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000056337

RCV000593715

RCV001004247

RCV001826607

RCV003473440

ClinVar Variation:

53162

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ile336Lys	CA345302 NM_000492.4:c.1007T>A