Canonical Allele Identifier: PA2827292533
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2824619
ClinVar RCV Id: RCV003754342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Thr1639Ser
CA384880506
NM_001330260.2:c.4915A>T
CA384880508
NM_001330260.2:c.4916C>G