Allele Registry

Canonical Allele Identifier: PA913194010

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000728272

RCV000757789

RCV000780112

RCV001592932

ClinVar Variation:

593277

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ala46Val	CA4450646 NM_000492.4:c.137C>T