ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825837051
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
875293
ClinVar RCV Id:
RCV001099008
RCV001856341
RCV004032046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135446.1:p.Arg809His
CA636784
NM_001141974.3:c.2426G>A