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: PA246989

Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 198370

ClinVar RCV Id: RCV000179680 RCV000624879 RCV000763668 RCV001276932 RCV001331235 RCV002509282 RCV003474936

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071407.4:p.Arg3175His	CA246988 NM_022124.6:c.9524G>A