ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827750091
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68584
ClinVar RCV Id:
RCV000059460
RCV000808399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Arg322Ile
CA285057
NM_001353948.2:c.965G>T