ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093335
Gene: SCNN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029.1:p.Val114Ile
CA120273
NM_001038.6:c.340G>A