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: PA2828305187

Gene: APTX HGNC NCBI

Linked Data

ClinVar Variation Id: 214120

ClinVar RCV Id: RCV000514430 RCV000596207 RCV000988172 RCV003927837

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355932.1:p.Arg111His	CA323767 NM_001369003.1:c.332G>A