ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827757446
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206770
ClinVar RCV Id:
RCV000188874
RCV001857646
RCV000585879
RCV002399702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Arg535His
CA317245
NM_001353949.2:c.1604G>A