ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827762568
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1801821
ClinVar RCV Id:
RCV002463978
RCV003103167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr105Asn
CA59804349
NM_001353950.2:c.314C>A