Allele Registry

Canonical Allele Identifier: PA221012

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000078984

RCV000675059

RCV001009488

RCV001588874

RCV002256031

RCV003473479

ClinVar Variation:

53460

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Pro750Leu	CA221011 NM_000492.4:c.2249C>T