ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825360774
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
193200
ClinVar RCV:
RCV000176763
RCV000189181
RCV000417008
RCV001265414
RCV001847815
RCV001849328
RCV002516714
ClinVar Variation:
196039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Arg1882Gln
CA202100
NM_001040143.2:c.5645G>A