ClinGen Allele Registry
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Canonical Allele Identifier:
PA916036940
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79540
ClinVar RCV:
RCV000059528
RCV001854246
RCV003992176
ClinVar Variation:
68648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ala871Val
CA266120
NM_001353961.2:c.2612C>T