Canonical Allele Identifier: PA2827781922
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1675810
ClinVar RCV Id: RCV002214179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Met447Ile
CA349070396
NM_001353957.2:c.1341G>T
CA349070399
NM_001353957.2:c.1341G>A
CA349070402
NM_001353957.2:c.1341G>C