ClinGen Allele Registry
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Canonical Allele Identifier:
PA109887
Gene: ATP13A2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071372.1:p.Gly504Arg
NM_022089.4:c.1510G>A
NM_022089.4:c.1510G>C