ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827780931
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383663
ClinVar RCV Id:
RCV001892771
RCV002077341
RCV002552875
RCV003330101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Glu1790Lys
CA349067770
NM_001353955.2:c.5368G>A