ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036916
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12886
ClinVar RCV Id:
RCV000013746
RCV000059433
RCV003992151
RCV001385324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ile842Met
CA256596
NM_001353961.2:c.2526C>G