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: PA916046845

Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 126919

ClinVar RCV Id: RCV000114775

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354553.1:p.Pro3900Leu	CA151277 NM_001367624.2:c.11699C>T