ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826011300
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2053516
ClinVar RCV Id:
RCV002922565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Glu1998Lys
CA349063016
NM_001165963.4:c.5992G>A