ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827774806
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059441
ClinVar Variation:
68566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Thr1710Arg
CA285009
NM_001353952.2:c.5129C>G