Allele Registry

Canonical Allele Identifier: PA327165

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577261

RCV001508224

RCV002483057

RCV003230382

ClinVar Variation:

53730

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Gly1130Ala	CA327164 NM_000492.4:c.3389G>C