ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827771075
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2153965
ClinVar RCV Id:
RCV003069036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Leu1288Ser
CA1942866
NM_001353951.2:c.3863T>C