ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826259220
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Arg946His
CA284910
NM_001202435.3:c.2837G>A