Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580448134

Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1958709

ClinVar RCV Id: RCV002725595

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071372.1:p.Val1083Leu	CA338233207 NM_022089.4:c.3247G>T CA338233208 NM_022089.4:c.3247G>C