ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107347
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68554
ClinVar RCV Id:
RCV000059428
RCV000584823
RCV000636349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Asp1608Tyr
CA284982
NM_001165963.4:c.4822G>T