ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827772201
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651755
ClinVar RCV Id:
RCV000807180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Leu1943Phe
CA349063495
NM_001353951.2:c.5827C>T