ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786828
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_001340887.1:p.Ile1754Leu
CA349068079
NM_001353958.2:c.5260A>C