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: PA2826096980

Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480209

ClinVar RCV Id: RCV002022006

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165404.1:p.Gln458_Pro459insArgGln	CA2573145279 NM_001171933.1:c.1370_1375dup