ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826013889
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68653
ClinVar RCV Id:
RCV000059533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Asp1714Gly
CA266123
NM_001165964.3:c.5141A>G