ClinGen Allele Registry
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Canonical Allele Identifier:
PA284873
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68506
ClinVar RCV Id:
RCV000059378
RCV000188863
RCV000636386
RCV001198232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg393His
CA284871
NM_006920.6:c.1178G>A