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: PA2830379731

Gene: APTX HGNC NCBI

Linked Data

ClinVar Variation Id: 994780

ClinVar RCV Id: RCV001288442 RCV001814301

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_778239.2:p.Ala198Val	CA5022363 NM_175069.3:c.593C>T