ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827778540
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206745
ClinVar RCV Id:
RCV000188840
RCV003448282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Leu221Pro
CA317148
NM_001353955.2:c.662T>C