Canonical Allele Identifier: PA2827770079
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 373008
ClinVar RCV Id: RCV000413693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Gln554His
CA16042368
NM_001353951.2:c.1662G>C
CA349068220
NM_001353951.2:c.1662G>T