ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891850134
Gene: ATP13A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579095
ClinVar RCV Id:
RCV000702289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071372.1:p.Arg129Trp
CA338263429
NM_022089.4:c.385C>T