ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825835473
Gene: ATP13A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1022752
ClinVar RCV:
RCV001350763
ClinVar Variation:
1046235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135445.1:p.Val648Ile
CA637026
NM_001141973.3:c.1942G>A