ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827753130
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203183
ClinVar RCV Id:
RCV002651542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ser1328Pro
CA349052944
NM_001353948.2:c.3982T>C