ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807812
Gene: ATP13A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Ala249Thr
CA637500
NM_022089.4:c.745G>A