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: PA916050897

Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 4928

ClinVar RCV Id: RCV000005211 RCV001261012 RCV001106128 RCV001205177 RCV002476931 RCV001831515 RCV003472978

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_443068.1:p.Pro240Leu