Canonical Allele Identifier: PA2827789422
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206846
ClinVar RCV Id: RCV000188973

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Val1553Leu
CA317529
NM_001353960.2:c.4657G>C
CA349071712
NM_001353960.2:c.4657G>T