Canonical Allele Identifier: PA2827777570
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Asn1593Ile
CA16044312
NM_001353954.2:c.4778A>T