Canonical Allele Identifier: PA2573251048
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1493044
ClinVar RCV Id: RCV001984069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Glu443Gln
CA349070494
NM_006920.6:c.1327G>C