ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013121
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
69407
ClinVar RCV Id:
RCV001304935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Lys1285Gln
CA59772659
NM_001165964.3:c.3853A>C