ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827786403
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68551
ClinVar RCV Id:
RCV000059425
RCV001069069
RCV001249684
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Ile1517Val
CA284976
NM_001353958.2:c.4549A>G