Canonical Allele Identifier: PA2826013805
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189970
ClinVar RCV Id: RCV000180924
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Asp1674Glu
CA303444
NM_001165964.3:c.5022T>A
CA349069185
NM_001165964.3:c.5022T>G