ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827771605
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1524711
ClinVar RCV Id:
RCV002049641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ser1604Phe
CA349071250
NM_001353951.2:c.4811C>T