ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406777
Gene: ATP13A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Thr517Ile
CA16043959
NM_022089.4:c.1550C>T