ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826013192
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27924
ClinVar RCV:
RCV000013745
RCV000059409
RCV003992150
ClinVar Variation:
12885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1325Leu
CA256593
NM_001165964.3:c.3973G>C