ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827787177
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079597
RCV001133438
RCV001133439
RCV001854406
RCV004545745
ClinVar Variation:
93664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Arg28His
CA221620
NM_001353960.2:c.83G>A