ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827784628
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059555
RCV000997286
RCV001129823
RCV001129824
RCV001393043
ClinVar Variation:
68675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Thr297Ile
CA285264
NM_001353958.2:c.890C>T