ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826260438
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68565
ClinVar RCV Id:
RCV000059440
RCV000188987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Cys1716Arg
CA285006
NM_001202435.3:c.5146T>C