ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915991943
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46032
ClinVar RCV Id:
RCV000039268
RCV000725960
RCV000763667
RCV001108081
RCV001108080
RCV001276040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165405.1:p.Glu250Lys
CA137571
NM_001171934.1:c.748G>A