Canonical Allele Identifier: PA2827772304
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530417
ClinVar RCV Id: RCV000636274

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp45Glu
CA1943563
NM_001353952.2:c.135C>G
CA349243091
NM_001353952.2:c.135C>A