ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826092693
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1696383
ClinVar RCV Id:
RCV002266528
RCV003101512
RCV003101511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.Arg1048Cys
CA5544491
NM_001171930.2:c.3142C>T