ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915991982
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46038
ClinVar RCV Id:
RCV000039274
RCV001104790
RCV001104789
RCV001522497
RCV001826580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165405.1:p.Glu348Gln
CA137583
NM_001171934.1:c.1042G>C