Canonical Allele Identifier: PA2827779153
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1025352
ClinVar RCV Id: RCV001325655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Lys639Asn
CA349067291
NM_001353955.2:c.1917G>T
CA349067292
NM_001353955.2:c.1917G>C