Allele Registry

Canonical Allele Identifier: PA327192

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000670179

RCV001197964

RCV001532974

RCV001826666

ClinVar Variation:

53745

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Asn1148Lys	CA327191 NM_000492.4:c.3444C>A CA368993643 NM_000492.4:c.3444C>G