ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827785979
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Leu1281Arg
CA349053253
NM_001353958.2:c.3842T>G