ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828476158
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002272935
ClinVar Variation:
1699078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Phe1527_Asp1534del
CA2573130278
NM_001371247.1:c.4579_4602del