ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139741179
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Leu778Pro
CA349071572
NM_001353961.2:c.2333T>C