ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828475571
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596677
ClinVar RCV Id:
RCV000732587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ala1263Val
CA349028158
NM_001371247.1:c.3788C>T