Canonical Allele Identifier: PA2827787394
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_001340889.1:p.Phe178Leu
CA349075514
NM_001353960.2:c.534C>G
CA349075515
NM_001353960.2:c.534C>A
CA349075523
NM_001353960.2:c.532T>C