Allele Registry

Canonical Allele Identifier: PA645403148

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000009851

RCV000173721

RCV000264087

RCV001528586

ClinVar Variation:

9269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153048.1:p.Trp552Arg	CA120274 NM_001159576.2:c.1654T>C CA383554178 NM_001159576.2:c.1654T>A