ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826013955
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68569
ClinVar RCV Id:
RCV000059444
RCV001854242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Met1752Thr
CA285018
NM_001165964.3:c.5255T>C