ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827752764
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68531
ClinVar RCV Id:
RCV000059404
RCV001344646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Gly1233Arg
CA284928
NM_001353948.2:c.3697G>C