ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107773
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059425
RCV001069069
RCV001249684
ClinVar Variation:
68551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ile1545Val
CA284976
NM_001165963.4:c.4633A>G