Canonical Allele Identifier: PA2826129542
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207141
ClinVar RCV Id: RCV000189299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Phe273Leu
CA318319
NM_001177984.2:c.817T>C
CA385226587
NM_001177984.2:c.819C>A
CA385226588
NM_001177984.2:c.819C>G