ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499278040
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064820
ClinVar RCV Id:
RCV001374976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Cys1721Tyr
CA384884043
NM_014191.4:c.5162G>A