ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317684
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206885
ClinVar RCV Id:
RCV000189026
RCV001334844
RCV002514050
RCV002514051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Glu1960Gly
CA317682
NM_006920.6:c.5879A>G