ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139687375
Gene: SCNN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153048.1:p.Gly513Glu
CA383554439
NM_001159576.2:c.1538G>A