Allele Registry

Canonical Allele Identifier: PA094242

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577485

ClinVar Variation:

54020

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.His199Gln	CA327591 NM_000492.4:c.597T>G CA368976759 NM_000492.4:c.597T>A