Canonical Allele Identifier: PA2827786557
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190005
ClinVar RCV Id: RCV000180961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg1617Pro
CA303527
NM_001353958.2:c.4850G>C