ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778858
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1916227
ClinVar RCV Id:
RCV002613187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala395Asp
CA349071028
NM_001353955.2:c.1184C>A