Canonical Allele Identifier: PA2827781265
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530417
ClinVar RCV Id: RCV000636274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Asp45Glu
CA1943563
NM_001353957.2:c.135C>G
CA349243091
NM_001353957.2:c.135C>A