ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013628
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68638
ClinVar RCV Id:
RCV000059517
RCV000735365
RCV002054913
RCV002336219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1584Ile
CA285183
NM_001165964.3:c.4750G>A