Allele Registry

Canonical Allele Identifier: PA645403147

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000215836

RCV000280531

RCV000337981

RCV002518202

RCV002518203

ClinVar Variation:

229238

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153048.1:p.Leu465Ile	CA6405952 NM_001159576.2:c.1393C>A