ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826010089
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2034846
ClinVar RCV Id:
RCV002889741
RCV004536424
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ser1231Ile
CA349055685
NM_001165963.4:c.3692G>T