ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777799
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000554528
ClinVar Variation:
461279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Ser1711Pro
CA349068817
NM_001353954.2:c.5131T>C