ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827773854
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1490559
ClinVar RCV Id:
RCV002001790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Val1158Gly
CA349056679
NM_001353952.2:c.3473T>G