ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827784081
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68573
ClinVar RCV Id:
RCV000059449
RCV000189020
RCV002470754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Ile1894Thr
CA285030
NM_001353957.2:c.5681T>C