Canonical Allele Identifier: PA303451
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Tyr827Asp
CA303448
NM_001165963.4:c.2479T>G