ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580230240
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010295
ClinVar RCV Id:
RCV002850993
RCV003326639
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ser946Pro
CA349068302
NM_001353961.2:c.2836T>C