ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830294820
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519507
ClinVar RCV Id:
RCV002024659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Arg254His
CA406053219
NM_152296.5:c.761G>A