ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785354
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_001340887.1:p.Arg834Gly
CA281752
NM_001353958.2:c.2500C>G