Canonical Allele Identifier: PA2827781764
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 976200
ClinVar RCV Id: RCV001253422

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Pro358Ala
CA349071329
NM_001353957.2:c.1072C>G