ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827290840
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1157021
ClinVar RCV Id:
RCV001499909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ala218Pro
CA385224589
NM_001330260.2:c.652G>C