ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658669995
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450430
ClinVar RCV Id:
RCV000521968
RCV002525172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Arg1866Gln
CA384887889
NM_014191.4:c.5597G>A