Canonical Allele Identifier: PA2827783688
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180982
ClinVar Variation:
190026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Gly1660Val
CA303590
NM_001353957.2:c.4979G>T