Canonical Allele Identifier: PA2827290824
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2630146
ClinVar RCV Id: RCV004527832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Val211Leu
CA385224421
NM_001330260.2:c.631G>C
CA385224426
NM_001330260.2:c.631G>T