Canonical Allele Identifier: PA2827290698
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 452224
ClinVar RCV Id: RCV000521808
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Gly70Arg
CA385228318
NM_001330260.2:c.208G>A
CA385228320
NM_001330260.2:c.208G>C