Canonical Allele Identifier: PA2827757899
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180852
ClinVar Variation:
189900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Trp727Leu
CA303250
NM_001353949.2:c.2180G>T