Canonical Allele Identifier: PA2827778323
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2178954
ClinVar RCV Id: RCV002591648

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Pro82Ser
CA349242675
NM_001353955.2:c.244C>T