Canonical Allele Identifier: PA2827787954
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1189857
ClinVar RCV Id: RCV001550380 RCV002568316
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Lys546Asn
CA1943282
NM_001353960.2:c.1638G>T
CA349069050
NM_001353960.2:c.1638G>C