Allele Registry

Canonical Allele Identifier: PA093669

Gene: CFTR HGNC NCBI

Linked Data

ClinVar RCV:

RCV000007528

RCV000007529

RCV000078997

RCV000417156

RCV000763151

RCV000826137

RCV001009478

RCV001642199

RCV003473001

RCV004018585

ClinVar Variation:

7109

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Arg117His	CA221026 NM_000492.4:c.350G>A CA353800 NM_000492.4:c.[350G>A;1210-6del] CA891862588 NM_000492.4:c.[350G>A;1210-7_1210-6del]