Canonical Allele Identifier: PA2826012479
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Leu835Trp
CA303139
NM_001165964.3:c.2504T>G