ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827768044
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1065176
ClinVar RCV Id:
RCV001375625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ile1759Phe
CA349068196
NM_001353950.2:c.5275A>T