Canonical Allele Identifier: PA2827784492
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 587828
ClinVar RCV Id: RCV001567210 RCV001862014 RCV002312318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Phe218Leu
CA59802259
NM_001353958.2:c.652T>C
CA349074182
NM_001353958.2:c.654C>G
CA349074184
NM_001353958.2:c.654C>A