ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827753466
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310724
ClinVar RCV Id:
RCV001767838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ala1406Asp
CA349050012
NM_001353948.2:c.4217C>A