ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827761000
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059435
ClinVar Variation:
68560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Thr1647Arg
CA284994
NM_001353949.2:c.4940C>G