ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079279755
Gene: SCNN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029.1:p.Arg81Gly
CA383559718
NM_001038.6:c.241C>G