Canonical Allele Identifier: PA2827777466
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1438278
ClinVar RCV Id: RCV001957807 RCV003322907
ClinVar Variation Id: 2857930
ClinVar RCV Id: RCV003754843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Phe1518Leu
CA349072365
NM_001353954.2:c.4554T>G
CA349072366
NM_001353954.2:c.4554T>A
CA349072371
NM_001353954.2:c.4552T>C