ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828476320
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000986861
ClinVar Variation:
801785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Leu1563Arg
CA349036509
NM_001371247.1:c.4688T>G