ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827762220
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2053516
ClinVar RCV Id:
RCV002922565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Glu1987Lys
CA349063016
NM_001353949.2:c.5959G>A