ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827292833
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2892014
ClinVar RCV Id:
RCV003752999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Glu1884Lys
CA6571936
NM_001330260.2:c.5650G>A