Canonical Allele Identifier: PA2827789123
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1310724
ClinVar RCV Id: RCV001767838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ala1377Asp
CA349050012
NM_001353960.2:c.4130C>A