Canonical Allele Identifier: PA285239
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68661
ClinVar RCV Id: RCV000059541 RCV000435635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Phe1797Leu
CA285237
NM_006920.6:c.5389T>C
CA349067651
NM_006920.6:c.5391C>A
CA349067654
NM_006920.6:c.5391C>G