Canonical Allele Identifier: PA221582
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68616
ClinVar RCV Id: RCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000986890 RCV000723551 RCV001082811 RCV001129578 RCV002313744 RCV004537267
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr1163Ser
CA221580
NM_006920.6:c.3488C>G
CA349056646
NM_006920.6:c.3487A>T