ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992022
Gene: CDH23
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000454163
ClinVar Variation:
402249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165405.1:p.Leu495Pro
CA16609573
NM_001171934.1:c.1484T>C