Canonical Allele Identifier: PA2827777574
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1676352
ClinVar RCV Id: RCV002221734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Val1598Leu
CA349071330
NM_001353954.2:c.4792G>C
CA349071335
NM_001353954.2:c.4792G>T