ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786492
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68554
ClinVar RCV Id:
RCV000059428
RCV000584823
RCV000636349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Asp1580Tyr
CA284982
NM_001353958.2:c.4738G>T