Allele Registry

Canonical Allele Identifier: PA094250

Gene: CFTR HGNC NCBI

ClinVar RCV:

RCV000056399

RCV000755925

RCV000763155

RCV001004441

RCV001831798

ClinVar Variation:

54018

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.His199Tyr	CA328129 NM_000492.4:c.595C>T