ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827771086
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68625
ClinVar RCV Id:
RCV000059503
RCV000188936
RCV001786331
RCV001220193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Leu1298Phe
CA266111
NM_001353951.2:c.3892C>T