ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292813
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2765983
ClinVar RCV Id:
RCV003590415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Val1874dup
CA2697559275
NM_001330260.2:c.5619_5621dup