ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827759293
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68617
ClinVar RCV Id:
RCV000059494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Thr1199Lys
CA285129
NM_001353949.2:c.3596C>A