Canonical Allele Identifier: PA303401
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180910
ClinVar Variation:
189956
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Leu108Pro
CA303399
NM_001165963.4:c.323T>C