ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978352
Gene: ATP13A2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001135446.1:p.Arg1043His
NM_001141974.3:c.3128G>A