ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827779558
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059396
RCV000429753
ClinVar Variation:
68524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Gly938Glu
CA284913
NM_001353955.2:c.2813G>A