ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826130753
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639109
ClinVar RCV Id:
RCV000791829
RCV000992913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Lys1812Arg
CA384887536
NM_001177984.2:c.5435A>G