Canonical Allele Identifier: PA2827787947
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68588
ClinVar RCV Id: RCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV001252611 RCV000789040 RCV001705717 RCV002316218 RCV004537265
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg541Gln
CA234872
NM_001353960.2:c.1622G>A