Allele Registry

Canonical Allele Identifier: PA093661

Gene: CFTR HGNC NCBI

Linked Data

ClinVar RCV:

RCV000056382

RCV000727627

RCV000763150

RCV001004428

RCV001009394

RCV001826603

RCV003227627

RCV003473295

ClinVar Variation:

48688

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg117Cys	CA328115 NM_000492.4:c.349C>T