Allele Registry

Canonical Allele Identifier: PA2825932742

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000009851

RCV000173721

RCV000264087

RCV001528586

ClinVar Variation:

9269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153047.1:p.Trp516Arg	CA120274 NM_001159575.2:c.1546T>C CA383554178 NM_001159575.2:c.1546T>A