ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827765930
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206805
ClinVar RCV Id:
RCV000188922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.His1206Arg
CA317383
NM_001353950.2:c.3617A>G