ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827777870
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68567
ClinVar RCV Id:
RCV000059442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Gly1750Glu
CA285012
NM_001353954.2:c.5249G>A