Canonical Allele Identifier: PA2827780518
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206846
ClinVar RCV Id: RCV000188973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Val1570Leu
CA317529
NM_001353955.2:c.4708G>C
CA349071712
NM_001353955.2:c.4708G>T