Canonical Allele Identifier: PA2827783813
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180829
ClinVar Variation:
189876
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Asp1727Gly
CA303182
NM_001353957.2:c.5180A>G