ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827769292
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
201622
ClinVar RCV:
RCV000188835
RCV000500830
ClinVar Variation:
206740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ser169Pro
CA317134
NM_001353951.2:c.505T>C