ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827772324
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189089
RCV001852498
ClinVar Variation:
206942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ile68Ser
CA317804
NM_001353952.2:c.203T>G