Canonical Allele Identifier: PA2827292735
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1285472
ClinVar RCV Id: RCV001706828

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asp1833Glu
CA384886933
NM_001330260.2:c.5499T>G
CA384886937
NM_001330260.2:c.5499T>A