ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827770459
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372566
ClinVar RCV Id:
RCV000413258
RCV000696398
RCV002248644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Arg854Gln
CA16042360
NM_001353951.2:c.2561G>A