Allele Registry

Canonical Allele Identifier: PA275302

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000047174

RCV000178781

RCV000724146

RCV001009504

RCV001802207

RCV003322594

RCV003993779

ClinVar Variation:

53983

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg170His	CA275301 NM_000492.4:c.509G>A