ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828475443
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464907
ClinVar RCV Id:
RCV000551875
RCV001556515
RCV002265794
RCV002456120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Arg1177Trp
CA1940130
NM_001371247.1:c.3529C>T