ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825835334
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293791
ClinVar RCV Id:
RCV002392825
RCV001753750
RCV002494909
RCV000269192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135445.1:p.Pro469Ala
CA637211
NM_001141973.3:c.1405C>G