Allele Registry

Canonical Allele Identifier: PA1139687375

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV001113508

RCV001113509

RCV002491358

RCV004032179

ClinVar Variation:

883257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153048.1:p.Gly513Glu	CA383554439 NM_001159576.2:c.1538G>A