Allele Registry

Canonical Allele Identifier: PA913194319

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000734691

RCV001785716

RCV001830642

ClinVar Variation:

598323

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Trp1282Cys	CA4451556 NM_000492.4:c.3846G>C CA368975464 NM_000492.4:c.3846G>T