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: PA2828305186

Gene: APTX HGNC NCBI

Linked Data

ClinVar Variation Id: 994780

ClinVar RCV Id: RCV001288442 RCV001814301

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355932.1:p.Ala110Val	CA5022363 NM_001369003.1:c.329C>T