ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827771796
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12894
ClinVar RCV Id:
RCV001296128
RCV000013754
RCV000013755
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Thr1698Ile
CA256611
NM_001353951.2:c.5093C>T