ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580167134
Gene: SCNN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153048.1:p.Ala702Ser
CA383552666
NM_001159576.2:c.2104G>T