Canonical Allele Identifier: PA2827789843
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68661
ClinVar RCV Id: RCV000059541 RCV000435635
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Phe1779Leu
CA285237
NM_001353960.2:c.5335T>C
CA349067651
NM_001353960.2:c.5337C>A
CA349067654
NM_001353960.2:c.5337C>G