Canonical Allele Identifier: PA2827292849
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 530423
ClinVar RCV Id: RCV000636283 RCV002533204 RCV003994055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1904Cys
CA6571941
NM_001330260.2:c.5710C>T