Canonical Allele Identifier: PA2827773251
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2435670
ClinVar RCV Id: RCV003142757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Glu714Asp
CA349065533
NM_001353952.2:c.2142A>T
CA349065536
NM_001353952.2:c.2142A>C