Canonical Allele Identifier: PA2827778549
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189871
ClinVar RCV Id: RCV000180824 RCV000428290
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Lys225Asn
CA303162
NM_001353955.2:c.675G>C
CA349074093
NM_001353955.2:c.675G>T