Canonical Allele Identifier: PA645404640
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 429417
ClinVar RCV Id: RCV000493824

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asp1544His
CA349072277
NM_001165963.4:c.4630G>C