ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826130567
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1318937
ClinVar RCV Id:
RCV001755585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Arg1582Cys
CA236327337
NM_001177984.2:c.4744C>T