ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573189340
Gene: ATP1A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Glu530Gln
CA406046838
NM_001256214.2:c.1588G>C