ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404391
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001159435.1:p.Gly1419Ter
NM_001165963.4:c.[4254del;4256G>T;4258T>A...
NM_001165963.4:c.[4254del;4256G>T;4258T>G...
NM_001165963.4:c.4255G>T