Canonical Allele Identifier: PA2827775369
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180851
ClinVar Variation:
189899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Ser103Ile
CA303246
NM_001353954.2:c.308G>T