ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828475720
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
391627
ClinVar RCV:
RCV000469153
RCV001270400
RCV002510575
ClinVar Variation:
410982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Arg1319Trp
CA1940198
NM_001371247.1:c.3955C>T