ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826091202
Gene: CDH23
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000454219
ClinVar Variation:
402247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.Asp228Val
CA16609568
NM_001171930.2:c.683A>T