Canonical Allele Identifier: PA2826129477
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2767097
ClinVar RCV Id: RCV003590451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Phe210Leu
CA385223669
NM_001177984.2:c.628T>C
CA385223693
NM_001177984.2:c.630T>A
CA385223695
NM_001177984.2:c.630T>G