ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107081
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059432
RCV000188986
RCV000763457
RCV001198988
RCV001208285
RCV002316217
ClinVar Variation:
68558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Arg1645Gln
CA284991
NM_001165963.4:c.4934G>A