Canonical Allele Identifier: PA2827789536
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12882
ClinVar RCV Id: RCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg1619His
CA256584
NM_001353960.2:c.4856G>A