Canonical Allele Identifier: PA303098
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180799
ClinVar Variation:
189845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Pro1668Arg
CA303095
NM_001165963.4:c.5003C>G