Allele Registry

Canonical Allele Identifier: PA2825932785

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000151811

RCV000295920

RCV000325126

RCV001668303

RCV001807094

ClinVar Variation:

165164

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153047.1:p.Thr686Ala	CA177870 NM_001159575.2:c.2056A>G CA3054215742 NM_001159575.2:c.2055_2056delinsTG