Allele Registry

Canonical Allele Identifier: PA326571

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577471

ClinVar Variation:

53311

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Gly550Arg	CA326570 NM_000492.4:c.1648G>A CA368976080 NM_000492.4:c.1648G>C