Canonical Allele Identifier: PA2827784994
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1189857
ClinVar RCV Id: RCV001550380 RCV002568316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Lys547Asn
CA1943282
NM_001353958.2:c.1641G>T
CA349069050
NM_001353958.2:c.1641G>C