Canonical Allele Identifier: PA2827762978
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189871
ClinVar RCV Id: RCV000180824 RCV000428290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Lys225Asn
CA303162
NM_001353950.2:c.675G>C
CA349074093
NM_001353950.2:c.675G>T