ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827749742
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2898671
ClinVar RCV Id:
RCV003753079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Gly232Asp
CA349073897
NM_001353948.2:c.695G>A