ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830294786
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435421
ClinVar RCV Id:
RCV002001830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Thr222Met
CA2573156418
NM_152296.5:c.665_666delinsTG