ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826130653
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
859059
ClinVar RCV Id:
RCV001065082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Pro1678Ala
CA384883967
NM_001177984.2:c.5032C>G