ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687456
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
840016
ClinVar RCV Id:
RCV001041905
RCV001827251
RCV002481892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165405.1:p.Thr50Met
CA5546213
NM_001171934.1:c.149C>T