ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827767848
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ala1713Val
CA349068800
NM_001353950.2:c.5138C>T