ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780036
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2153965
ClinVar RCV Id:
RCV003069036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Leu1287Ser
CA1942866
NM_001353955.2:c.3860T>C