Canonical Allele Identifier: PA2827782640
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 425226
ClinVar RCV Id: RCV000487912 RCV001448434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Tyr997Phe
CA1943013
NM_001353957.2:c.2990A>T