ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827770584
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059395
RCV000378734
RCV000543457
RCV001004709
RCV001264404
RCV002433566
ClinVar Variation:
68523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Arg935His
CA284910
NM_001353951.2:c.2804G>A