ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828361345
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347532
ClinVar RCV Id:
RCV002041744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Ile1565Thr
CA384880302
NM_001369788.1:c.4694T>C