ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786827
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79551
ClinVar RCV:
RCV000059539
ClinVar Variation:
68659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Ile1754Met
CA285234
NM_001353958.2:c.5262C>G