Canonical Allele Identifier: PA2827291481
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2909830
ClinVar RCV Id: RCV003753702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Thr729Ser
CA236311203
NM_001330260.2:c.2186C>G
CA384879806
NM_001330260.2:c.2185A>T