ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826013644
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Leu1593Pro
CA349070729
NM_001165964.3:c.4778T>C