ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100896
Gene: ATP1A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_689509.1:p.Thr613Met
NM_152296.5:c.1838C>T