ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916050897
Gene: CDH23
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_443068.1:p.Pro240Leu
NM_052836.3:c.719C>T