ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825357050
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001767965
ClinVar Variation:
1317399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Ser1680Phe
CA349038055
NM_001040142.2:c.5039C>T