ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780732
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839613
ClinVar RCV Id:
RCV001041410
RCV002481886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Glu1686Lys
CA1942695
NM_001353955.2:c.5056G>A