ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA318210
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207088
ClinVar RCV Id:
RCV000189243
RCV001390241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Leu216Trp
CA318208
NM_021007.3:c.647T>G