ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827786158
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848474
ClinVar RCV Id:
RCV001052241
RCV003106104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Val1383Met
CA349049976
NM_001353958.2:c.4147G>A