ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827749805
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1440271
ClinVar RCV Id:
RCV001950364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Leu247Pro
CA349073664
NM_001353948.2:c.740T>C