ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827790295
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68523
ClinVar RCV Id:
RCV000059395
RCV000378734
RCV000543457
RCV001004709
RCV001264404
RCV002433566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Arg132His
CA284910
NM_001353961.2:c.395G>A