ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826009130
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279592
ClinVar RCV Id:
RCV000258942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ala342Glu
CA10602709
NM_001165963.4:c.1025C>A