ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573281634
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1521402
ClinVar RCV Id:
RCV002046297
RCV004044743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Ala1107Val
CA636527
NM_022089.4:c.3320C>T