Canonical Allele Identifier: PA916036728
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180905
ClinVar Variation:
189952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ala525Val
CA303389
NM_001353961.2:c.1574C>T