Canonical Allele Identifier: PA2826130738
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1320728
ClinVar RCV Id: RCV001776707 RCV003772117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Met1795Leu
CA236327668
NM_001177984.2:c.5383A>T
CA384886994
NM_001177984.2:c.5383A>C