ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778194
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206885
ClinVar RCV Id:
RCV000189026
RCV001334844
RCV002514050
RCV002514051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Glu1959Gly
CA317682
NM_001353954.2:c.5876A>G