ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825932721
Gene: SCNN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153047.1:p.Arg393Trp
CA6405988
NM_001159575.2:c.1177C>T