ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825353628
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_001035232.1:p.Val230Ile
CA349017603
NM_001040142.2:c.688G>A