ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827778900
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Asn416Ser
CA349070890
NM_001353955.2:c.1247A>G