Canonical Allele Identifier: PA2827787301
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2545490
ClinVar RCV Id: RCV003262403

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Pro116Ser
CA349076936
NM_001353960.2:c.346C>T