Canonical Allele Identifier: PA2828361545
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2850013
ClinVar RCV Id: RCV003754714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Lys1812Asn
CA384887552
NM_001369788.1:c.5436G>C
CA384887555
NM_001369788.1:c.5436G>T