ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916050897
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4928
ClinVar RCV Id:
RCV000005211
RCV001261012
RCV001106128
RCV001205177
RCV002476931
RCV001831515
RCV003472978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443068.1:p.Pro240Leu
CA253338
NM_052836.3:c.719C>T