ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828473914
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
841876
ClinVar RCV Id:
RCV001044188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Val230Ile
CA349017603
NM_001371247.1:c.688G>A