ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317163
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206748
ClinVar RCV Id:
RCV000188847
RCV001052796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ile264Thr
CA317160
NM_006920.6:c.791T>C