ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828474061
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695885
ClinVar RCV Id:
RCV002265520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ser299Leu
CA1939711
NM_001371247.1:c.896C>T