ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825835127
Gene: ATP13A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135445.1:p.Val192Ile
CA338260355
NM_001141973.3:c.574G>A