ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827762167
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189026
RCV001334844
RCV002514050
RCV002514051
ClinVar Variation:
206885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Glu1960Gly
CA317682
NM_001353949.2:c.5879A>G