Allele Registry

Canonical Allele Identifier: PA327308

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000506393

RCV001826674

RCV002354241

ClinVar Variation:

53822

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg1283Lys	CA327307 NM_000492.4:c.3848G>A