ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741866725
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2756858
ClinVar RCV Id:
RCV003590134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ile623Val
CA349049591
NM_001353961.2:c.1867A>G