Canonical Allele Identifier: PA2827786627
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2707845
ClinVar RCV Id: RCV003589893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Leu1647Phe
CA349069648
NM_001353958.2:c.4939C>T