ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827781369
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423370
ClinVar RCV Id:
RCV000481610
RCV001262228
RCV001851250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Leu117Pro
CA16617318
NM_001353957.2:c.350T>C