ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825353800
Gene: SCN2A
HGNC
NCBI
Error
Service Error - Aggregation:
Error
Failed to retrieve aggregated linked-data
Status
timeout of 3500ms exceeded
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Asp343Gly
CA349019879
NM_001040142.2:c.1028A>G