ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825836007
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420889
ClinVar RCV Id:
RCV001923609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135445.1:p.Arg1143Cys
CA636482
NM_001141973.3:c.3427C>T