Allele Registry

Canonical Allele Identifier: PA326374

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577686

RCV000729383

RCV000780155

RCV002247432

ClinVar Variation:

53172

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg347Cys	CA326373 NM_000492.4:c.1039C>T