ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827776362
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68518
ClinVar RCV Id:
RCV000059390
RCV002513779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Thr800Arg
CA284895
NM_001353954.2:c.2399C>G