ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826091226
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2862546
ClinVar RCV Id:
RCV003699886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.His248Tyr
CA377113279
NM_001171930.2:c.742C>T