ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827773437
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000022765
ClinVar Variation:
29884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Arg851Gly
CA281752
NM_001353952.2:c.2551C>G