Canonical Allele Identifier: PA285137
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68619
ClinVar RCV Id: RCV000059496
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ser1220Arg
CA285135
NM_006920.6:c.3660T>A
CA349055681
NM_006920.6:c.3660T>G
CA349055688
NM_006920.6:c.3658A>C