Canonical Allele Identifier: PA2829675108
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2152398
ClinVar RCV Id: RCV003079271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Leu794Val
CA349063662
NM_006920.6:c.2380T>G