ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827756870
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68499
ClinVar RCV Id:
RCV000059371
RCV001257271
RCV001753478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Arg356Gly
CA284853
NM_001353949.2:c.1066A>G