ClinGen Allele Registry
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Canonical Allele Identifier:
PA916036458
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059482
ClinVar Variation:
68605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Trp952Gly
CA285099
NM_001353948.2:c.2854T>G