Canonical Allele Identifier: PA2827783089
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189991
ClinVar RCV Id: RCV000180947
ClinVar Variation Id: 429551
ClinVar RCV Id: RCV000493892
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Met1320Ile
CA303495
NM_001353957.2:c.3960G>A
CA59769826
NM_001353957.2:c.3960G>C
CA349050717
NM_001353957.2:c.3960G>T