ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771455
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059514
RCV000517134
RCV001296129
ClinVar Variation:
68635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Leu1503Ser
CA285177
NM_001353951.2:c.4508T>C