Canonical Allele Identifier: PA2573251050
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1675810
ClinVar RCV Id: RCV002214179
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Met447Ile
CA349070396
NM_006920.6:c.1341G>T
CA349070399
NM_006920.6:c.1341G>A
CA349070402
NM_006920.6:c.1341G>C