Canonical Allele Identifier: PA2827775196
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2959868
ClinVar RCV Id: RCV003812043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp1947Asn
CA349063399
NM_001353952.2:c.5839G>A