Canonical Allele Identifier: PA2825932710
Gene: SCNN1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153047.1:p.Asn336Ser
CA6406054
NM_001159575.2:c.1007A>G
CA2580615123
NM_001159575.2:c.1006_1007delinsTC