ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341680
Gene: SCN4A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000325.4:p.Ile1495Phe
NM_000334.4:c.4483A>T