ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139724514
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
833789
ClinVar RCV Id:
RCV001034295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Val1874Gly
CA384888128
NM_014191.4:c.5621T>G