ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827751056
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2801129
ClinVar RCV Id:
RCV003753978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Arg618Ser
CA349067449
NM_001353948.2:c.1852C>A