Canonical Allele Identifier: PA2828361584
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 130252
ClinVar RCV Id: RCV000118288 RCV000239702 RCV000416967 RCV000239630 RCV000467598 RCV002274920 RCV003992186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Asn1836Ser
CA289040
NM_001369788.1:c.5507A>G