ClinGen Allele Registry
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Canonical Allele Identifier:
PA891866331
Gene: SCN11A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001336182.1:p.Arg225Cys
NM_001349253.2:c.673C>T