ClinGen Allele Registry
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Canonical Allele Identifier:
PA281754
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29884
ClinVar RCV Id:
RCV000022765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg851Gly
CA281752
NM_006920.6:c.2551C>G