ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036748
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189856
ClinVar RCV Id:
RCV000180810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ile549Asn
CA303118
NM_001353961.2:c.1646T>A