Canonical Allele Identifier: PA2828361574
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207131
ClinVar RCV Id: RCV000189289 RCV000239726 RCV000229600 RCV000416947 RCV002252035 RCV002281572 RCV003992221
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1831Trp
CA318300
NM_001369788.1:c.5491C>T