ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827769966
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
916180
ClinVar RCV Id:
RCV001171718
RCV001873585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala442_Glu443del
CA1139655663
NM_001353951.2:c.1323_1328del