Canonical Allele Identifier: PA645404704
Gene: SCN1A HGNC NCBI
ClinVar Allele:
362323
ClinVar RCV:
RCV000417022
ClinVar Variation:
375515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asn1605Ile
CA16044312
NM_001165963.4:c.4814A>T