Allele Registry

Canonical Allele Identifier: PA327205

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577691

RCV000755922

RCV002281553

ClinVar Variation:

53754

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Glu116Lys	CA327204 NM_000492.4:c.346G>A