Canonical Allele Identifier: PA2827750839
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68588
ClinVar RCV Id: RCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV001252611 RCV000789040 RCV001705717 RCV002316218 RCV004537265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg542Gln
CA234872
NM_001353948.2:c.1625G>A