ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827773584
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68524
ClinVar RCV Id:
RCV000059396
RCV000429753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Gly939Glu
CA284913
NM_001353952.2:c.2816G>A