Allele Registry

Canonical Allele Identifier: PA327557

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000577726

RCV000590474

RCV001731342

RCV001826693

RCV002490615

ClinVar Variation:

53993

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Gln179Lys	CA327556 NM_000492.4:c.535C>A