ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891855251
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
588891
ClinVar RCV Id:
RCV002315385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Arg526Lys
CA6571281
NM_014191.4:c.1577G>A