Allele Registry

Canonical Allele Identifier: PA120275

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000009851

RCV000173721

RCV000264087

RCV001528586

ClinVar Variation:

9269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001029.1:p.Trp493Arg	CA120274 NM_001038.6:c.1477T>C CA383554178 NM_001038.6:c.1477T>A