ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406708
Gene: ATP13A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415542
RCV002502449
ClinVar Variation:
374886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135446.1:p.Pro1039Leu
CA16043957
NM_001141974.3:c.3116C>T