Canonical Allele Identifier: PA2827292708
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1320497
ClinVar RCV Id: RCV001776476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Glu1804Asp
CA236327630
NM_001330260.2:c.5412G>C
CA384885973
NM_001330260.2:c.5412G>T