ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741974525
Gene: ATP13A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003812688
ClinVar Variation:
2952001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Val850Leu
CA18628836
NM_022089.4:c.2548G>C