ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318291
Gene: SCN8A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055006.1:p.Met1646Leu
NM_014191.4:c.4936A>C
NM_014191.4:c.4936A>T