ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827759966
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480007
ClinVar Variation:
421697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Gly1360Arg
CA16617292
NM_001353949.2:c.4078G>C