Canonical Allele Identifier: PA093326
Gene: SCNN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 9267
ClinVar RCV Id: RCV000009849 RCV003162223
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001029.1:p.Ser562Leu
CA120272
NM_001038.6:c.1685C>T