ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826011037
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002021598
ClinVar Variation:
1518250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ile1782Leu
CA349068079
NM_001165963.4:c.5344A>C