ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA317137
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206740
ClinVar RCV Id:
RCV000188835
RCV000500830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser169Pro
CA317134
NM_006920.6:c.505T>C