Canonical Allele Identifier: PA2827781130
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408919
ClinVar RCV Id: RCV000464386 RCV003320649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.His1917Gln
CA16610265
NM_001353955.2:c.5751C>G
CA349063878
NM_001353955.2:c.5751C>A