ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA171013
Gene: SCN11A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001274152.1:p.Leu1158Pro
NM_001287223.1:c.3473T>C