ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826091202
Gene: CDH23
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.Asp228Val
CA16609568
NM_001171930.2:c.683A>T