Canonical Allele Identifier: PA2573256229
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1358713
ClinVar RCV Id: RCV001872075
ClinVar Variation Id: 2441961
ClinVar RCV Id: RCV003148281 RCV003148279 RCV003148280 RCV003148278 RCV003588872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Phe1769Leu
CA384885235
NM_014191.4:c.5305T>C
CA384885240
NM_014191.4:c.5307C>A
CA384885241
NM_014191.4:c.5307C>G