ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827790877
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449138
ClinVar RCV Id:
RCV000518972
RCV001340972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Arg1174Gln
CA1942622
NM_001353961.2:c.3521G>A