ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774105
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203183
ClinVar RCV Id:
RCV002651542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ser1317Pro
CA349052944
NM_001353952.2:c.3949T>C