Canonical Allele Identifier: PA2827760766
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Val1578Gly
CA303511
NM_001353949.2:c.4733T>G