ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260723
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_001189364.1:p.Gly1880Glu
CA317645
NM_001202435.3:c.5639G>A