Canonical Allele Identifier: PA285008
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68565
ClinVar RCV Id: RCV000059440 RCV000188987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Cys1705Arg
CA285006
NM_006920.6:c.5113T>C