ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA151962
Gene: ATP13A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071372.1:p.Ala1144Thr
NM_022089.4:c.3430G>A