ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827784419
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418590
ClinVar RCV Id:
RCV000481626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Leu170Pro
CA16617316
NM_001353958.2:c.509T>C