ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036888
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68638
ClinVar RCV Id:
RCV000059517
RCV000735365
RCV002054913
RCV002336219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Val798Ile
CA285183
NM_001353961.2:c.2392G>A