Canonical Allele Identifier: PA303157
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189869
ClinVar RCV Id: RCV000180822 RCV000412755 RCV000457088 RCV000763459 RCV002281565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Arg931His
CA303154
NM_001165963.4:c.2792G>A