Canonical Allele Identifier: PA2827780287
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1739737
ClinVar RCV Id: RCV002332074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Asp1431His
CA349049553
NM_001353955.2:c.4291G>C