Canonical Allele Identifier: PA303593
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180982
ClinVar Variation:
190026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Gly1688Val
CA303590
NM_001165963.4:c.5063G>T