ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826013596
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189998
ClinVar RCV Id:
RCV000180954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1561Gly
CA303511
NM_001165964.3:c.4682T>G