Canonical Allele Identifier: PA2827783670
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2959591
ClinVar RCV Id: RCV003811766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Phe1650Leu
CA349069595
NM_001353957.2:c.4950C>G
CA349069597
NM_001353957.2:c.4950C>A
CA349069607
NM_001353957.2:c.4948T>C