Allele Registry

Canonical Allele Identifier: PA2825932700

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000295692

RCV000343569

ClinVar Variation:

310149

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153047.1:p.Arg272Lys	CA6406118 NM_001159575.2:c.815G>A