ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825360369
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001311936
ClinVar Variation:
1013421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Leu1650Phe
CA349037845
NM_001040143.2:c.4948C>T