Allele Registry

Canonical Allele Identifier: PA221022

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000046775

RCV000757083

RCV001004289

RCV001826528

RCV003473238

ClinVar Variation:

38480

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ile1023_Val1024del	CA221021 NM_000492.4:c.3067_3072del CA164965248 NM_000492.4:c.3067_3072delinsCACTAT