ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827779974
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Phe1247Ser
CA285448
NM_001353955.2:c.3740T>C