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: PA2825835099

Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 664804

ClinVar RCV Id: RCV000822972 RCV001766749 RCV002535966

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135445.1:p.Asp144Val	CA637649 NM_001141973.3:c.431A>T