ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827783575
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68557
ClinVar RCV Id:
RCV000059431
RCV000176634
RCV000463147
RCV000623263
RCV002281560
RCV003448258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Arg1608Gln
CA145253
NM_001353957.2:c.4823G>A