ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA230915
Gene: ATP13A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Ile946Phe
CA230914
NM_022089.4:c.2836A>T