Canonical Allele Identifier: PA2741933303
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2711277
ClinVar RCV Id: RCV003590499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Phe178Leu
CA349075514
NM_006920.6:c.534C>G
CA349075515
NM_006920.6:c.534C>A
CA349075523
NM_006920.6:c.532T>C