Allele Registry

Canonical Allele Identifier: PA177872

Gene: SCNN1A HGNC NCBI

ClinVar RCV:

RCV000151811

RCV000295920

RCV000325126

RCV001668303

RCV001807094

RCV005083945

ClinVar Variation:

165164

3618329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153048.1:p.Thr722Ala	CA177870 NM_001159576.2:c.2164A>G CA3054215742 NM_001159576.2:c.2163_2164delinsTG