ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827789527
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68558
ClinVar RCV Id:
RCV000059432
RCV000188986
RCV000763457
RCV001198988
RCV001208285
RCV002316217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Arg1616Gln
CA284991
NM_001353960.2:c.4847G>A