ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826011613
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68577
ClinVar RCV Id:
RCV000059453
RCV002513781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Thr217Lys
CA285039
NM_001165964.3:c.650C>A