ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827758168
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474345
ClinVar RCV Id:
RCV001971204
RCV003147718
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ile828Thr
CA349062561
NM_001353949.2:c.2483T>C