ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825835872
Gene: ATP13A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415585
ClinVar Variation:
374887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135445.1:p.Phe1046del
CA16043958
NM_001141973.3:c.3137_3139del