ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827783704
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839613
ClinVar RCV Id:
RCV001041410
RCV002481886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Glu1670Lys
CA1942695
NM_001353957.2:c.5008G>A