Canonical Allele Identifier: PA645402864
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala342Glu
CA10602709
NM_006920.6:c.1025C>A