ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827779413
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189863
ClinVar RCV Id:
RCV000180816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Leu851Trp
CA303139
NM_001353955.2:c.2552T>G