ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776578
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68605
ClinVar RCV Id:
RCV000059482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Trp940Gly
CA285099
NM_001353954.2:c.2818T>G