ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499242966
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176077
ClinVar RCV Id:
RCV001531464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Thr583Met
CA406045774
NM_001256214.2:c.1748C>T