ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826130764
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346990
ClinVar RCV Id:
RCV002032933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Asp1822Ala
CA384887820
NM_001177984.2:c.5465A>C