ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780828
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002044256
ClinVar Variation:
1348315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Val1734Leu
CA1942684
NM_001353955.2:c.5200G>C