ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826012892
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000587683
RCV002530921
ClinVar Variation:
496119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1140Ile
CA1942940
NM_001165964.3:c.3418G>A