Canonical Allele Identifier: PA2826012181
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68589
ClinVar RCV Id: RCV000059465 RCV000079561 RCV000259883 RCV000434909 RCV000355074 RCV001087094 RCV001132420 RCV002311541 RCV004537266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Arg604His
CA285063
NM_001165964.3:c.1811G>A