ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573281547
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383044
ClinVar RCV Id:
RCV001924488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Ile493Leu
CA338252082
NM_022089.4:c.1477A>C