ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827761896
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206875
ClinVar RCV Id:
RCV000488340
RCV000692247
RCV001136462
RCV001136463
RCV002345677
RCV003128398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Gly1869Glu
CA317645
NM_001353949.2:c.5606G>A