Canonical Allele Identifier: PA916036853
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93653
ClinVar RCV Id: RCV000723573 RCV001854405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Asn714Lys
CA221595
NM_001353961.2:c.2142C>A
CA349072381
NM_001353961.2:c.2142C>G