ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826260292
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68558
ClinVar RCV Id:
RCV000059432
RCV000188986
RCV000763457
RCV001198988
RCV001208285
RCV002316217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Arg1645Gln
CA284991
NM_001202435.3:c.4934G>A