ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827765373
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1007217
ClinVar RCV Id:
RCV001304362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Asn996Asp
CA349060369
NM_001353950.2:c.2986A>G