ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827789475
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2703974
ClinVar RCV Id:
RCV003589783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Gly1589Arg
CA349071216
NM_001353960.2:c.4765G>C