ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827779348
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68518
ClinVar RCV Id:
RCV000059390
RCV002513779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Thr800Arg
CA284895
NM_001353955.2:c.2399C>G