ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA245544
Gene: CDH23
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
194583
ClinVar RCV:
RCV000479783
RCV001004784
RCV001104308
RCV001107060
RCV002503688
ClinVar Variation:
197422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Val1711Ile
CA245543
NM_022124.6:c.5131G>A