ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256613
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013754
RCV000013755
RCV001296128
ClinVar Variation:
12894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Thr1698Ile
CA256611
NM_006920.6:c.5093C>T