ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SCN1A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000364554.3:p.Tyr1770Ter
ENST00000375405.7:c.5310del
ENST00000375405.7:c.5310C>A
ENST00000375405.7:c.5310C>G
