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: PA2825835915

Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078375

ClinVar RCV Id: RCV002988600

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135445.1:p.Pro1075His	CA636540 NM_001141973.3:c.3224C>A