Canonical Allele Identifier: PA2827291940
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207112
ClinVar RCV Id: RCV000189270 RCV000694282 RCV004020290 RCV004528969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Pro1119Leu
CA318262
NM_001330260.2:c.3356C>T