ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA137586
Gene: CDH23
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071407.4:p.Arg3Cys
NM_022124.6:c.7C>T