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: PA2830379741

Gene: APTX HGNC NCBI

Linked Data

ClinVar Variation Id: 4426

ClinVar RCV Id: RCV000004676

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_778239.2:p.Pro206Leu	CA253142 NM_175069.3:c.617C>T