ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827788447
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68523
ClinVar RCV Id:
RCV000059395
RCV000378734
RCV000543457
RCV001004709
RCV001264404
RCV002433566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Arg917His
CA284910
NM_001353960.2:c.2750G>A