ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827772512
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Leu186Pro
CA349075420
NM_001353952.2:c.557T>C