ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826260774
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68573
ClinVar RCV Id:
RCV000059449
RCV000189020
RCV002470754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ile1922Thr
CA285030
NM_001202435.3:c.5765T>C