ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826093917
Gene: CDH23
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165402.1:p.Pro346Ser
CA16609569
NM_001171931.2:c.1036C>T