ClinGen Allele Registry
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Canonical Allele Identifier:
PA915978352
Gene: ATP13A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116443
RCV000675887
RCV001087148
RCV002312033
ClinVar Variation:
128474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135446.1:p.Arg1043His
CA151961
NM_001141974.3:c.3128G>A