ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827756362
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68579
ClinVar RCV Id:
RCV000059455
RCV000636408
RCV000188842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ile227Ser
CA285045
NM_001353949.2:c.680T>G