ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785379
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001035614
ClinVar Variation:
834846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Thr847Arg
CA349061726
NM_001353958.2:c.2540C>G