Canonical Allele Identifier: PA2827783480
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68636
ClinVar RCV Id: RCV000059515 RCV000986874 RCV001513378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Arg1547Cys
CA219777
NM_001353957.2:c.4639C>T