ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826129914
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665233
ClinVar RCV Id:
RCV000823470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Tyr724Cys
CA384879771
NM_001177984.2:c.2171A>G