ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108533
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_001159435.1:p.Trp1812Gly
CA206668
NM_001165963.4:c.5434T>G