Canonical Allele Identifier: PA2827291770
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2578319
ClinVar RCV Id: RCV003325918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asp989Glu
CA6571533
NM_001330260.2:c.2967T>A
CA384891950
NM_001330260.2:c.2967T>G