ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786887
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002023102
ClinVar Variation:
1512570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Lys1786del
CA2573133689
NM_001353958.2:c.5356_5358del