ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826009859
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1983189
ClinVar RCV Id:
RCV002770127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.His1020Asp
CA349060197
NM_001165963.4:c.3058C>G