Canonical Allele Identifier: PA303265
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180856
ClinVar Variation:
189904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Gly177Val
CA303263
NM_001165963.4:c.530G>T