Canonical Allele Identifier: PA303544
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Pro657Leu
CA303541
NM_006920.6:c.1970C>T