ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826377070
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1712113
ClinVar RCV Id:
RCV002293831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243142.1:p.Val614Ile
CA406045329
NM_001256213.2:c.1840G>A