ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826096600
Gene: CDH23
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165404.1:p.Glu250Lys
CA137571
NM_001171933.1:c.748G>A