ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827761671
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059542
RCV000193290
RCV000478850
ClinVar Variation:
68662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Trp1801Gly
CA206668
NM_001353949.2:c.5401T>G