ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223631
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96026
ClinVar RCV Id:
RCV000082088
RCV000764922
RCV001831884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Ser2350Leu
CA223630
NM_022124.6:c.7049C>T