ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786564
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12882
ClinVar RCV Id:
RCV000013742
RCV000059521
RCV000484119
RCV001040793
RCV001192959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Arg1620His
CA256584
NM_001353958.2:c.4859G>A