Canonical Allele Identifier: PA2827755144
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_001340877.1:p.Phe1808Leu
CA285237
NM_001353948.2:c.5422T>C
CA349067651
NM_001353948.2:c.5424C>A
CA349067654
NM_001353948.2:c.5424C>G