Canonical Allele Identifier: PA645449543
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 430208
ClinVar RCV Id: RCV000494231 RCV002281575 RCV003588637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Thr1787Asn
CA384885535
NM_014191.4:c.5360C>A