ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826129943
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2506817
ClinVar RCV Id:
RCV003237186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Met772Val
CA384880104
NM_001177984.2:c.2314A>G