Canonical Allele Identifier: PA2825932745
Gene: SCNN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 310138
ClinVar RCV Id: RCV000328262 RCV000385070 RCV000728158 RCV000949782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153047.1:p.Ser518Leu
CA6405834
NM_001159575.2:c.1553C>T