ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013528
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2811613
ClinVar RCV Id:
RCV003754131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Gln1513Arg
CA1942755
NM_001165964.3:c.4538A>G