Canonical Allele Identifier: PA2827761207
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_001340878.1:p.Asp1691Glu
CA303444
NM_001353949.2:c.5073T>A
CA349069185
NM_001353949.2:c.5073T>G