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: PA2829974849

Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480209

ClinVar RCV Id: RCV002022006

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071407.4:p.Gln2698_Pro2699insArgGln	CA2573145279 NM_022124.6:c.8090_8095dup