Allele Registry

Canonical Allele Identifier: PA915985725

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000286142

RCV000343386

RCV003243065

ClinVar Variation:

310132

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153048.1:p.Arg648Gln	CA6405713 NM_001159576.2:c.1943G>A