ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498656
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227233
ClinVar RCV Id:
RCV000216851
RCV000900248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Thr2092Ile
CA5546048
NM_022124.6:c.6275C>T